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Spinocerebellar Ataxia Type 28 Orphanet

Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). ... SCA28 accounts for approximately 1.5% of all European cases of ADCA. Clinical description The mean age of symptom onset was 19.5 years in the original kindred.

AFG3L2, TUBB6, SPG7, OMA1
- Spinocerebellar Ataxia Type 28 GeneReviews
  
  Summary Clinical characteristics. Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. ... Diagnosis Suggestive Findings Spinocerebellar ataxia type 28 (SCA28) should be suspected in individuals with the following: Onset generally in young adulthood (but with a wide range: ages 3-76 years) A slowly progressive gait disorder resulting from cerebellar impairment Cerebellar dysarthria Oculomotor abnormalities including ophthalmoparesis, nystagmus and ptosis Hyperreflexia or brisk deep tendon reflexes Brain MRI showing cerebellar atrophy predominantly of the superior vermis, with sparing of the brain stem A family history consistent with autosomal dominant inheritance Establishing the Diagnosis The diagnosis of SCA28 is established in a proband with typical clinical findings and identification of a heterozygous pathogenic variant in AFG3L2 by molecular genetic testing (see Table 1). ... Clinical Characteristics Clinical Description Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. Age of onset and progression . The usual age at onset is early adulthood (26.5 ± 17.2 years); the range is from age three to 78 years. ... The most commonly occurring SCAs, those caused by polyglutamine expansions (i.e., SCA1, SCA2, SCA3, SCA7, SCA17 and DRPLA), usually begin before age 30 years, are more rapidly progressive, and have brain stem involvement on MRI.
- Spinocerebellar Ataxia 28 OMIM
  
  A number sign (#) is used with this entry because spinocerebellar ataxia-28 (SCA28) is caused by heterozygous mutation in the AFG3L2 gene (604581) on chromosome 18p11. ... Clinical Features Cagnoli et al. (2006) reported a 4-generation Italian family in which at least 14 members were affected with juvenile-onset spinocerebellar ataxia inherited in an autosomal dominant pattern. The mean age at onset was 19.5 years (range 12 to 36) with unbalanced standing and gait abnormalities. ... Cagnoli et al. (2010) reported 9 European families, including 8 of French and 1 of Italian origin, with autosomal dominant SCA28 confirmed by genetic analysis. The mean age at onset was 30.7 years (range, 6 to 60 years), and most patients presented with cerebellar ataxia. ... INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Eye movement abnormalities - Dysmetric saccades - Smooth pursuit abnormalities - Gaze-evoked nystagmus - Slow saccades (with longer disease duration) - Ophthalmoparesis (with longer disease duration) - Ptosis (with longer disease duration) NEUROLOGIC Central Nervous System - Gait ataxia - Limb ataxia - Dysarthria - Hyperreflexia in the lower limbs - Increased muscle tone in the lower limbs - Extensor plantar responses - Dystonia (less common) - Parkinsonism (less common) - Spasticity - Cerebellar atrophy MISCELLANEOUS - Mean age at onset 30.7 years (range 6 to 60 years) - Slow progression MOLECULAR BASIS - Caused by mutation in the ATPase family gene 3-like 2 gene (AFG3L2, 604581.0001 ) ▲ Close
- Spinocerebellar Ataxia 28 GARD
  
  Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well).
Cataract 28 OMIM

Description Age-related cataracts are one of the leading causes of visual impairment and blindness among the elderly worldwide. Among age-related cataracts, cortical opacities rank as the second most common type (Iyengar et al., 2004). ... Few regions identified in this scan had previously been implicated in congenital or age-related cataracts. Inheritance Congdon et al. (2005) quantified the risk for age-related cortical cataract and posterior subcapsular cataract (PSC) associated with having an affected sib after adjusting for known environmental and personal risk factors. ... The model revealed that increasing age, female gender, a history of diabetes, and black race increased the odds of ARCC, whereas higher levels of provitamin A were protective. ... Pathogenesis Tan et al. (2007) studied the association of statin use with long-term incident cataract in the Blue Mountains Eye Study cohort. After controlling for age, gender, and other factors, statin use was found to reduce by 50% the risk of cataract development, principally nuclear or cortical cataract subtypes.
Deafness, Autosomal Dominant 28 OMIM

Affected individuals showed a mild to moderate hearing loss across most frequencies that progressed to severe loss in the higher frequencies by the fifth decade. Age at onset varied, with the earliest case documented at 7 years of age. Vona et al. (2013) studied a large 5-generation family segregating autosomal dominant postlingual hearing loss with a highly variable age of onset and progression. The proband was a man who developed bilateral progressive hearing loss at age 32 years. Hearing loss in family members with detailed clinical examination was characterized as bilateral, progressive, and usually beginning in the fifth decade of life; the youngest documented age of diagnosis was 32 years and the oldest was 65 years. ... In the proband of a large 5-generation family segregating autosomal dominant postlingual hearing loss with a highly variable age of onset and progression, who was negative for mutation in the GJB2 gene (121011) and for copy number variation, Vona et al. (2013) screened 80 known deafness-associated genes and identified a heterozygous splice site mutation in the GRHL2 gene (608576.0002) that segregated with disease in the family. ... INHERITANCE - Autosomal dominant HEAD & NECK Ears - Deafness, sensorineural - Mild to moderate hearing loss across most frequencies - Severe loss in the higher frequencies by the fifth decade MISCELLANEOUS - Variable age at onset (earliest reported 7 years) - Progressive deafness MOLECULAR BASIS - Caused by mutation in the GRHL2 gene ( 608576.0001 ) ▲ Close

GRHL2
Muscular Atrophy, Malignant Neurogenic OMIM

Zatz et al. (1971) described a Brazilian kindred of Italian origin in which 7 members had neurogenic muscular atrophy with an unusually malignant and rapid course. Onset varied from ages 28 to 62 years and death from respiratory paralysis occurred within 1 year. ... Pulmonary - Respiratory paralysis Muscle - Neurogenic muscular atrophy Misc - Malignant and rapid course - Onset age 28 to 62 years Inheritance - Autosomal dominant ▲ Close
Presenile Dementia, Kraepelin Type OMIM

In 4 of the 6 persons, onset was at a very early age: 28, 31, 33 and 34 years. Misc - Onset as early as age 28 Neuro - Nonspecific presenile dementia - Catatonia Inheritance - Autosomal dominant ▲ Close
Mitochondrial Complex I Deficiency, Nuclear Type 28 OMIM

A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 28 (MC1DN28) is caused by homozygous mutation in the NDUFA13 gene (609435) on chromosome 19p13. ... Brain imaging in 1 patient was normal until age 7 years, when progressive cerebellar atrophy was noted. The patients were still alive at ages 12 and 5 years, although handicapped.

NDUFA13
Canine Cognitive Dysfunction Wikipedia

Pets.webmd.com . Retrieved 2014-01-28 . ^ a b Andrea Menashe (2013-10-30). ... OregonLive.com . Retrieved 2014-01-28 . ^ "Dementia (Geriatric) in Dogs" . petMD . Retrieved 2014-01-28 . ^ "Cognitive Dysfunction Syndrome in Dogs" (PDF) . ... PMID 15795056 . ^ "Senior Dog Care: Older Dogs, Aged Minds: Dealing With Dog Dementia" . Drsfostersmith.com. 2013-08-26 . Retrieved 2014-01-28 .
Inflammatory Bowel Disease 28, Autosomal Recessive OMIM

A number sign (#) is used with this entry because of evidence that inflammatory bowel disease-28 (IBD28) is caused by homozygous or compound heterozygous mutation in the IL10RA gene (146933) on chromosome 11q23. ... Begue et al. (2011) studied a French boy who had onset of perianal lesions and pancolitis with granulomas at 1 month of age. The first signs of small bowel inflammation appeared at 9 years of age, with subsequent continuous aggravation; he also developed episodes of cutaneous folliculitis as well as bronchial infections. ... Mao et al. (2012) described a 3.5-year-old Chinese boy who in the second week of life presented with fever and oral ulceration, then bloody loose stools. At 3 months of age, he had perianal ulceration, and at 6 months he continued to have bloody loose stools and perianal granulomata, as well as intermittent pyoderma. ... Analysis of IL10RA in 6 additional patients with onset of severe colitis in the first year of life revealed a homozygous missense mutation in a German patient (146933.0002); no mutations were found in 32 children with IBD who had onset of symptoms at more than 12 months of age. In a French boy who had onset of perianal lesions and pancolitis with granulomas at 1 month of age, in whom hematopoietic cells showed a lack of response to IL10, Begue et al. (2011) identified homozygosity for a missense mutation in the IL10RA gene (146933.0003).

IL10RA
Combined Oxidative Phosphorylation Deficiency 28 OMIM

A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-28 (COXPD28) is caused by homozygous or compound heterozygous mutation in the SLC25A26 gene (611037) on chromosome 3p14. Description Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. ... The children were of Iraqi, Japanese, and Moroccan descent, respectively; 2 of the families were consanguineous. The first child presented at age 4 weeks with acute circulatory collapse and pulmonary hypertension associated with severe lactic acidosis, which was successfully treated. ... The child improved, and gross development was normal until age 2 years, when she had an episode of lactic acidosis with cardiopulmonary arrest and hypoxic brain damage; afterwards she was severely handicapped. ... She had hypotonia, bradycardia, increased lactate and pyruvate, and cystic necrosis of the brain; she died at 5 days of age from respiratory and multiple organ failure.

SLC25A26
- Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect Orphanet
  
  A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.
Sudden Cardiac Death Of Athletes Wikipedia

The prevalence of any single, associated condition is low, probably less than 0.3% of the population in the athletes' age group, [ citation needed ] and the sensitivity and specificity of common screening tests leave much to be desired. ... Its fatality rate is about 65% even with prompt CPR and defibrillation , and more than 80% without. [4] [5] Age 35 serves as an approximate borderline for the likely cause of sudden cardiac death. Before age 35, congenital abnormalities of the heart and blood vessels predominate. ... These athletes, in alphabetical order, experienced sudden cardiac death by age 40. Their notability is established by reliable sources in other Wikipedia articles. ... "Epidemiology of sudden cardiac death: clinical and research implications" . Prog Cardiovasc Dis . 51 (3): 213–28. doi : 10.1016/j.pcad.2008.06.003 .
Spinocerebellar Ataxia Type 11 GeneReviews

Clinical Features of Spinocerebellar Ataxia Type 11 View in own window Feature Number of Persons w/Feature Comment Cerebellar ataxia 28/28 Variable truncal &/or gait ataxia Limb ataxia 21/28 Dysarthria 22/28 Jerky pursuit 18/28 Nystagmus 20/28 Ophthalmoplegia 2/28 Diplopia 4/28 Hyperreflexia 18/28 Most prominent in the British family Lower > upper limbs Extrapyramidal features 1/28 Laterocollis "No-no" head tremor Onset. In the six families described with spinocerebellar ataxia type 11 (SCA11), age of onset ranged from age nine years in the family of Danish origin to age 40-50 years in the families from France, Germany, and China. ... In the Danish family, one individual presented with diplopia and nystagmus at age nine years [Lindquist et al 2017]. A sib presented at age four years with ataxia and was found to have nystagmus at age nine years [Lindquist et al 2017]. ... Life span in individuals with SCA11 is normal; many affected individuals live beyond age 75 years. In nine individuals from the British and Pakistani families, death occurred between ages 55 and 88 years.

TTBK2, ATXN1
- Spinocerebellar Ataxia 11 OMIM
  
  A number sign (#) is used with this entry because of evidence that this form of spinocerebellar ataxia, SCA11, is caused by mutations in the gene encoding tau tubulin kinase-2 (TTBK2; 611695). Pure autosomal dominant cerebellar ataxia is a relatively benign, late-onset, slowly progressive neurologic disorder characterized by an uncomplicated cerebellar syndrome (see SCA1; 164400). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). Clinical Features Worth et al. (1999) identified 2 British families with a relatively pure form of autosomal dominant cerebellar ataxia in which affected individuals did not have the CAG expansion in the CACNA1A gene (601011), excluding a diagnosis of SCA6 (183086), and in which the disease was not linked to the SCA5 (600224) or SCA10 (603516) loci. Houlden et al. (2007) described an affected family from Devon, on the southwest coast of England, which stretched over 8 generations.
- Spinocerebellar Ataxia Type 11 Orphanet
  
  Clinical description SCA11 presents between the ages of 11-70 years with a mean age of onset of 25 years.
- Spinocerebellar Ataxia 11 GARD
  
  It is a very rare disease and very few patients have been reported to date. Age of onset ranges from the early teens to the mid 20s and life span is normal.
Charcot-Marie-Tooth Neuropathy Type 4c GeneReviews

Foot deformities were first observed between ages two and ten years, were moderately or severely disabling, and required surgery in 6% (1/18) to 11% (3/28) of cases (Table 2). ... Occurrence of Manifestations of CMT4C by Study View in own window Study Finding Study (Total Patients) Azzedine et al [2006] (28) Colomer et al [2006] (14) Senderek et al [2003] (18) Houlden et al [2009] (6) Baets et al [2011] (9) Laššuthová et al [2011] (16) Yger et al [2012] (14) Fischer et al [2012] (6) Cumulative Data Age at onset 1 st symptoms 2-10 4-39 Infancy-12 1-16 <1 1-12 1-12 ND 1-16 Neuropathy 2-10 Infancy-12 1-16 <1 2-50 2-50 2-25 1-50 Age at (last) exam (yrs) 5-45 8-45 11-56 8-42 ND ND 8-59 5-59 Foot deformity Pes cavus 20/28 14/14 1 8/18 Yes ND 13/15 12/14 ND Pes planus 7/28 4/18 Yes ND no no ND Pes valgus 1/28 ND ND ND no 3/14 ND Other No Hammer toes 8/18 Small feet ND Hammer toes no ND Total 28/28 14/14 13/18 2 6/6 1 7/9 14/15 14/14 ND 96/104 (92%) Age at onset (yrs) 2-10 No data 2-12 ND ND ND 1,12 3 ND 1-12 Surgery 3/28 None 1/13 No ND 9/14 4/14 ND 17/69 (24%) Spine deformity Total 27/28 5/14 4 11/18 4 6/6 6/9 10/12 12/12 5/6 82/105 (78%) Age at onset (yrs) 2-10 4 4-12 5 ND 2, 6, 7, 12 6 ND 7-15 ND 2-15 Surgery 7 7 + 6 8 = 13/27 1/14 1/11 3/6 3/6 ND 1/12 ND 22/76 (29%) ND = not done or not documented 1. ... Authors did not indicate whether they evaluated for kyphoscoliosis and/or lordosis. 5. Onset of scoliosis in infancy; age not reported 6.Age documented in 4 patients only 7. ... Additional Clinical Findings in CMT4C by Study View in own window Clinical Finding Study (Total Patients) Azzedine et al [2006] (28) Colomer et al [2006] (14) Senderek et al [2003] (18) Houlden et al [2009] (6) Baets et al [2011] (9) Laššuthová et al [2011] (16) Yger et al [2012] (14) Cumulative Data Hypoacusis 5/28 0/14 2/18 0/6 0/9 0/15 8/13 15/103 Deafness 0/28 5/14 1/18 2/6 1/9 3/15 0/13 12/103 Nystagmus 0/28 0/14 2/18 0/6 2/9 0/15 0/13 4/103 Pupillary light reflexes 0/28 3/14 0/18 1/6 0/9 0/15 14/13 4/20 Other pupillary disturbances -- -- -- Asymmetric size 1/6 -- -- -- 1/6 Lingual fasciculation -- 3/14 -- -- -- -- -- 3/14 Tongue atrophy and/or weakness -- -- -- 1/6 -- -- 2/13 3/19 Facial paresis 1/28 -- -- 1/6 1/9 -- 4/13 7/56 Facial weakness -- -- -- 1/6 -- -- -- 1/6 Head tremor -- 2/14 -- -- -- -- -- 2/14 Vocal cord involvement -- -- -- -- -- -- 1/13 1/13 Total patients w/cranial nerve involvement 5/28 9/14 5/14 1 4/6 -- -- 10/13 33/73 Respiratory insufficiency or hypoventilation 7/28 2 -- 2/18 -- 1/9 -- -- 10/55 Sensory ataxia 1/28 2/14 -- -- -- -- -- >3/42 3 Diabetes mellitus -- -- 1/18 -- -- -- -- 1/18 Romberg sign -- 2/14 -- -- -- -- -- 2/14 1. 14 of 18 patients were examined for cranial nerve involvement. 2. ... They also reported intrafamilial variability in age at onset, disease duration, and stage of disability.

SH3TC2, ITGA6, PMP22, SOX10, RAB11A, KIF20A
- Charcot-Marie-Tooth Disease, Type 4c OMIM
  
  Clinical Features Kessali et al. (1997) reported 2 large consanguineous Algerian families with autosomal recessive demyelinating CMT. Mean age at onset was 5.2 years (range 2 to 10 years). ... Senderek et al. (2003) reported phenotypic and molecular characterization of 17 patients from 11 families, as well as 1 sporadic case, with autosomal recessive demyelinating CMT linked to chromosome 5. Age at onset ranged from infancy to 12 years, and many patients had a delay in learning to walk. ... In the first branch, patients had a relatively late onset at ages 16, 26, and 37 years, respectively, with mild foot deformities, lower limb weakness and walking difficulties. ... Three patients in the second branch of the family had a more severe disease with onset at ages 6, 6, and 7 years, foot deformities, and distal lower limb weakness and areflexia; 1 had severe scoliosis. ... Azzedine et al. (2006) reported 10 families with CMT4C from Europe and North Africa. Onset occurred between ages 2 and 10 years, and almost all patients presented with scoliosis, kyphoscoliosis, and foot deformities.
- Charcot-Marie-Tooth Disease Type 4c Orphanet
  
  Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.
Lucio And Simplicio Godina Wikipedia

Lucio and Simplicio Godina Born March 8, 1908 Samar , Philippines Died Lucio: 24 November 1936 (1936-11-24) (aged 28) Simplicio: 8 December 1936 (1936-12-08) (aged 28) New York City , U.S. Spouse(s) Lucio: Natividad Matos Simplicio: Victorina Matos (Natividad and Victorina Matos were identical twin sisters ) Lucio Godina (March 8, 1908 – November 24, 1936) and Simplicio Godina (March 8, 1908 - December 8, 1936) were pygopagus conjoined twins from the island of Samar in the Philippines . At the age of 21 they married Natividad and Victorina Matos, who were identical twins .
Epileptic Encephalopathy, Early Infantile, 28 OMIM

A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-28 (EIEE28) is caused by homozygous or compound heterozygous mutation in the WWOX gene (605131) on chromosome 16q23. ... Clinical Features Abdel-Salam et al. (2014) reported an Egyptian girl, born of consanguineous parents, with a severe lethal neurologic phenotype resulting in death at age 16 months. At age 3 months, the patient had microcephaly (-3.6 SD), poor growth, and lack of psychomotor development. She developed intractable seizures at age 2 months. She had myoclonic movements and hyperreflexia as well as optic atrophy with retinal dysfunction. ... She was 1 of twins; the other twin was unaffected and heterozygous for the mutation. An older sib had died at age 3 months of a similar disorder. That sib developed seizures at age 40 days and did not follow objects or react to light, suggesting retinal degeneration. ... All patients developed pharmacoresistant focal, multifocal, or generalized seizures at a median age of 2 months. All had profoundly delayed psychomotor development; 2 had progressive microcephaly.

WWOX
Dystonia 28, Childhood-Onset OMIM

A number sign (#) is used with this entry because of evidence that childhood-onset dystonia-28 (DYT28) is caused by heterozygous mutation in the KMT2B gene (606834) on chromosome 19p13. Description Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. ... There were no additional motor neurologic features, and brain imaging was normal in all 4 probands. The oldest proband (family F1), aged 31 years, underwent deep brain stimulation of the globus pallidus with improvement of her condition. ... Meyer et al. (2017) reported 17 probands, ranging in age from 6 to 40 years, with childhood-onset dystonia. All patients had onset of symptoms in the first decade, except for a 46-year-old affected mother who reportedly had onset at age 23 years; her son had onset at age 8 years.

KMT2B
- Kmt2b-Related Dystonia GeneReviews
  
  KMT2B -related dystonia (DYT- KMT2B ) is a complex childhood-onset (mean age 7 years) movement disorder described to date in 39 individuals. ... Indeed, in one individual such MR changes were less evident on MRI performed at age 17 years compared to neuroimaging performed at age 13 years. ... Disease onset typically occurs between ages one and 10 years (33/39 individuals); however, onset in the second decade was reported in five individuals for whom data were available. Mean age of onset was 7.05 years in 38 individuals for whom data were available. ... Affected children are permitted to remain in the public school district until age 21. Discussion about transition plans including financial, vocation/employment, and medical arrangements should begin at age 12 years.
Deafness, Autosomal Dominant 27 OMIM

All affected individuals exhibited nonsyndromic bilateral progressive sensorineural hearing loss. The reported age of onset in the 11 affected individuals ranged from 7 to 28 years. Affected individuals under the age of 40 years exhibited moderate to profound hearing loss (40- to 90-decibel loss), whereas older affected individuals had severe to profound hearing loss. ... INHERITANCE - Autosomal dominant HEAD & NECK Ears - Hearing loss, progressive bilateral sensorineural, moderate-to-profound MISCELLANEOUS - Age of onset varies (7 to 28 years of age) - Based on one large North American family (last curated August 2015) ▲ Close

REST
Retinitis Pigmentosa 28 OMIM

A number sign (#) is used with this entry because retinitis pigmentosa-28 (RP28) is caused by homozygous or compound heterozygous mutation in the FAM161A gene (613596) on chromosome 2p15. ... Clinical Features Gu et al. (1999) described a consanguineous Indian family in which 4 members in 2 generations had autosomal recessive RP. Age of onset was between 5 and 15 years. The 3 oldest members, aged 39 to 47, had severe visual handicap. ... The course of the disease is rather slow, with age of onset in the second or third decade, severe visual handicap in the fifth decade, and legal blindness in the sixth to seventh decades. However, the youngest Indian patient had early onset of disease, at 5 years of age, and more rapid progression, with a visual acuity at age 15 of 3/60 in the left eye and the right eye reduced to counting fingers.

C8orf37, PDE6B, PDE6A, CRX, RPGR, RPE65, PDE6G, LRAT, ABCA4, EYS, MERTK, IMPDH1, ROM1, RHO, USH2A, CRB1, CNGB1, RPGRIP1, GUCY2D, RP2, NRL, RBP3, CLRN1, RDH12, SAG, SPATA7, CNGA1, ARL6, AIPL1, REEP6, RGR, DHX38, GUCA1B, OFD1, IDH3A, IDH3B, PRPF8, RP1, FAM161A, TULP1, SNRNP200, PRPF31, CERKL, NR2E3, CA4, MAK, PRCD, PRPF3, RLBP1, PROM1, PCARE, CHM, ARL2BP, TOPORS, BBS1, CYP4V2, BEST1, DHDDS, KLHL7, IMPG2, HGSNAT, IFT140, PRPF6, BBS2, TTC8, AHI1, SCAPER, CLN3, IFT172, CDHR1, KIZ, FLVCR1, TTPA, ARL3, PRPF4, AGBL5, RP9, SLC7A14, FSCN2, POMGNT1, ZNF513, ZNF408, RBP4, ABHD12, UNC119, NEK2, AHR, TUB, SEMA4A, ATF6, IFT88, FOXI2, UBAP1L, CCZ1B, CROCC, PDAP1, FAM71A, KIAA1549, IRX5, ARHGEF18, C1QTNF5, PRTFDC1, SLC37A3, NAALADL1, CRB2, NGF, CEP250, CWC27, CCDC66, GRIN2B, PRPH2, AGTPBP1, SLC6A6, AIFM1, FGFR2, KL, MT2A, PTEN, MYO7A, CEP290, GUCA1A, RDH5, CDH23, IQCB1, MSTO1, CACNA1A, BBS4, ATXN7, USH1C, CFAP410, ATP6, PANK2, MKKS, BBS9, SLC24A1, PEX1, RP1L1, HADHA, PNPLA6, SDCCAG8, BBS12, NDUFAF5, RRM2B, PDHA1, NDUFS8, NDUFV2, LZTFL1, FOXRED1, POMT2, RCBTB1, TST, FKRP, BBS7, CNGB3, NCAPG2, NPHP1, MKS1, NDUFB11, SURF1, SDHB, PEX2, WDPCP, PRPH, NDUFV1, NDUFA13, SCN1A, SCO1, SDHA, SDHD, PHYH, TACO1, LIPT1, SLC19A1, NDUFA12, PEX5, NGLY1, ALMS1, LARGE1, NDUFS4, PRDX1, NDUFS3, POLR3A, MFSD8, ZDHHC24, RNASEH1, CTNS, ARL13B, TRIM32, NIPAL1, ECHS1, FASTKD2, ERCC3, POMT1, ERCC6, ERG, IFT27, NDUFAF6, BBS5, NDUFS2, CLRN1-AS1, COX20, CYGB, COX15, COX10, COX8A, COX7B, CDH23-AS1, ACOX1, C8orf37-AS1, MMACHC, JAG1, AMACR, AIRE, PET100, SDHAF1, ZFYVE26, PHF3, ATP1A2, BCS1L, NDUFS7, CAV1, TTLL5, VSX2, ERCC8, COX6B1, PRRT2, MTFMT, GSS, COL18A1, GMPPB, HADHB, ND1, ND2, ND3, ND4, ND5, ND6, TRNK, TRNL1, TRNN, TRNS1, TRNV, TRNW, TRIM37, BBS10, NDUFA2, NDUFA4, NDUFA9, NDUFA10, NDUFS1, SLC19A3, WFS1, BBIP1, COA8, HCCS, NDUFAF2, HADH, TMEM14B, COX14, PLXNA2, LSM2, TRNT1, CLU, MFRP, PCDH15, DHX16, PTPRC, SLU7, KLK3, SIGMAR1, NXNL1, CLTA, CNTF, NT5C2, RPE, PROS1, PLAG1, NPHP4, TIMP3, PSAT1, NPEPPS, MYP2, CXCR6, RIMS1, RRH, SLC19A2, EXOSC2, ADIPOR1, LPAR2, USP9X, COG4, VCP, EDN1, LCA5, PDC, ATN1, OTX2, OTC, CNOT3, MVK, LPCAT1, MMP9, EDNRA, RCC1, EPO, INS, FANCF, HSPA4, HK1, GNAT1, HIF1A, OPN4, GSN, SERPINF1, GPR42, NSMCE3, GRK1, ALDH3A2, SFRP2, ACKR3, ADRA1A, ARL2, ATXN2, CC2D2A, ADRA2B, WDR19, SOD3, PLIN2, SSTR4, BRS3, STC1, ACTB, NRG4, TWIST2, GRK7, POC5, ARMS2, MFT2, SAMD11, SAMD7, NOC2L, JAKMIP1, MIR204, POLDIP2, GUCY2EP, LIN28B, NPHP3, ARSI, RD3, CENPV, PITPNM3, INVS, CENPK, TENT5A, CYCS, DCUN1D1, TWNK, SLC2A4RG, TBX20, RDH11, PNPLA2, KIDINS220, NGB, MPP4, NYX, TNMD, ENFL2, TUT1, DNER, FTO, ELOVL6, ALG12, RNF19A, COQ8B, SETD2, KLF15, PDZD7, HKDC1, C5AR2, DNAJC17, ADGRV1, CEP78, GNPTG, AAVS1, THBS2, WHRN, MMP2, HMOX1, HK2, HGF, GRM5, GRM1, GRB10, GLO1, GK, GJB2, GDNF, GDF2, G6PD, FRZB, FN1, FGF5, FGF2, FBN2, HSP90AA1, IDH2, IFNG, INSR, MEIS2, MDH1, MAP1A, SMAD4, LTB, LAMP1, ISG20, ING1, IGF1, IMPA1, CXCL8, IL6, IL2RA, IL1B, IL1A, CCN1, FASN, ETV5, ERN1, ALDH7A1, CACNA1F, C5AR1, C3, C1QBP, BSG, BMP4, BCL2, ARRB2, CANX, ARR3, ABCC6, APOE, APOB, AMFR, ADH7, ABO, CACNA1S, CCT, ERBB2, CYBB, EGF, E2F1, DUSP6, DNMT3A, CFD, ACE, CYLD, CTNNB1, CD44, MAPK14, CRYAB, CRK, CP, CORD1, COL2A1, CD74, RAB8A, MSR1, SH3BP4, CYTB, SYNJ1, FGF18, HSD17B6, DGKE, BRAP, SMC1A, USP11, AIMP2, PAX8, ZNF132, ZFP36, USH1E, TSC1, TP53, TNF, TMPRSS2, TSPAN7, SMC3, ARHGEF2, CRLF1, AKT3, TMED3, SIRT1, ARC, MAPRE3, ARPP21, AHSA1, PPIH, HEPH, SNAP29, PLEKHM1, PHYHIP, HDAC4, KNTC1, EIF2AK3, GRAP2, EFTUD2, TIMP2, TIMP1, DYNLT3, PKNOX1, HTRA1, PRNP, MAPK1, PRKCG, POLG, PMM2, PLAU, PIM1, RAC1, PGF, CFP, PDGFRB, NPTX2, NFE2L2, NAGLU, MYC, ALDH18A1, RASGRF1, ELOVL4, SFTPD, STATH, SOS1, SOD1, SNRPB, SNCA, SLC2A1, SGSH, SFRP5, RBP1, SEC14L1, CX3CL1, CCL2, S100A6, RPS6KB1, RPS6, RCVRN, H3P22
- Retinitis Pigmentosa 48 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-48 is caused by heterozygous mutation in the gene encoding guanylate cyclase activator 1B (GUCA1B; 602275) on chromosome 6p21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features In 7 members of 3 families in which mutation in the GUCA1B gene led to retinitis pigmentosa (RP48), Sato et al. (2005) found that the mutation was associated with RP with or without macular involvement in 5 members, macular degeneration in 1 member, and asymptomatic normal phenotype in 1 member. Sato et al. (2005) concluded that this mutation causes autosomal dominant retinal dystrophy with variable phenotypic expression and incomplete penetrance. Molecular Genetics Sato et al. (2005) screened 96 unrelated Japanese patients with retinitis pigmentosa for mutations in the GUCA1B gene and identified heterozygosity for a G157R mutation (602275.0001) in 3.
- Retinitis Pigmentosa 55 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-55 (RP55) is caused by homozygous mutation in the ARL6 gene (608845) on chromosome 3q11. One such family has been reported. Mutation in the ARL6 gene can also cause a form of Bardet-Biedl syndrome (BBS3; see 209900), in which retinitis pigmentosa is one of the primary features. Mapping Aldahmesh et al. (2009) used homozygosity mapping to suggest causative genes in 52 Saudi Arabian patients with nonsyndromic retinitis pigmentosa (RP), and found linkage to the BBS3 locus on chromosome 3p12-q13. Molecular Genetics In 4 Saudi Arabian sibs with nonsyndromic retinitis pigmentosa (RP) mapping to chromosome 3p12-q13, Aldahmesh et al. (2009) identified homozygosity for a missense mutation in the ARL6 gene (608845.0006). Thorough examination of the affected sibs by Safieh et al. (2010) revealed no recognizable primary or secondary features of BBS other than retinitis pigmentosa.
- Intellectual Developmental Disorder And Retinitis Pigmentosa OMIM
  
  Funduscopy revealed optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation. At ages 14 and 15 years, full-field electroretinograms were nonrecordable in 2 affected sisters (family A), reflecting reduced function of the entire retina.
- Retinitis Pigmentosa 39 OMIM
  
  Electroretinograms (ERGs) were reduced but detectable at the age of 54 years. This patient had been part of the study of Rivolta et al. (2000). Kaiserman et al. (2007) studied a large Iraqi Jewish family with a complex pattern of inheritance in which some family members suffered from Usher syndrome type 2 while others had nonsyndromic RP. At the age of 66 years, the mother in the nuclear family had advanced RP with nonrecordable ERG responses and severely constricted visual fields. Her 3 daughters with RP (aged 32 to 39 years) had somewhat less severe retinal disease, but all were legally blind.
- Cone-Rod Dystrophy 2 GARD
  
  Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina . These cells process light and allow people to see the accurate shape and color of objects. Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Severity of symptoms and rate of disease progression may vary; however, most individuals experience impaired color vision, blind spots, loss of peripheral vision, and night blindness by adulthood. CORD2 is caused by mutations in the CRX gene and is inherited in an autosomal dominant manner.
- Retinitis Pigmentosa 35 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-35 (RP35) can be caused by compound heterozygous mutation in the SEMA4A gene (607292) on chromosome 1q22. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Molecular Genetics Abid et al. (2006) screened 135 Pakistani patients with retinitis pigmentosa, 25 with cone-rod dystrophy (CORD10; 610283), and 30 with congenital blindness for mutations in the SEMA4A gene. They identified compound heterozygosity for 2 substitutions (607292.0001-607292.0002) in 2 RP and 2 CORD patients and heterozygosity for another substitution (607292.0003) in 3 patients with RP and 1 patient with congenital blindness. None of the mutations were found in 100 ethnically matched controls. INHERITANCE - Autosomal dominant - Autosomal recessive HEAD & NECK Eyes - Night blindness followed by complete blindness - Bone corpuscle-like pigmentation in equatorial and peripheral areas - Attenuated blood vessels in periphery - Macula clear in early stages MISCELLANEOUS - Allelic with cone-rod dystrophy 10 ( 610283 ) MOLECULAR BASIS - Caused by mutation in the semaphorin 4A gene (SEMA4A, 607292.0001 ) ▲ Close
- Retinitis Pigmentosa 72 OMIM
  
  Two sisters, born of unaffected parents from the same small geographic area, had onset of symptoms at 30 and 40 years of age, whereas the unrelated male patient from a consanguineous family presented at 17 years of age. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Night blindness - Constricted visual fields - Decreased visual acuity - Photophobia - Posterior subcapsular cataract - Blurring of fundus due to vitreous condensations - Pale optic disc - Attenuated vessels - Bone-spicule pigmentation in midperiphery - Poor pigmentation in lower hemiretina (in some patients) - Atrophy of retinal pigment epithelium in midperiphery - Peripapillary atrophy (in some patients) - Preservation of macula - Reduced or extinguished electroretinographic responses MISCELLANEOUS - Variable age at onset of symptoms, from second to fifth decade of life MOLECULAR BASIS - Caused by mutation in the zinc finger protein 408 gene (ZNF408, 616454.0003 ) ▲ Close
- Retinitis Pigmentosa 66 OMIM
  
  The 42-year-old brother reported loss of central vision and onset of night blindness at 32 years of age, whereas his older brother had loss of central vision at age 60 with no night deficiency even at 67 years of age. ... The cone amplitudes in the younger brother were smaller at age 46 than those in his older brother at age 67; both had delayed cone implicit times that were consistent with progressive disease.
- Retinitis Pigmentosa 19 OMIM
  
  The parents, who were related as second cousins, were unaffected. The mean age of onset was 8 years. Night blindness was followed by a decrease in visual acuity, starting at 14 years of age. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Night blindness - Decreased visual acuity - Concentric reduction of visual field - Optic disc pallor - Attenuated vessels - Peripheral scattered pigmentation - Bone spicule-like pigmentation - Severe atrophy of the retinal pigment epithelium - Abolished rod responses seen on electroretinography (ERG) - Markedly diminished cone responses seen on ERG MISCELLANEOUS - Onset of symptoms in the first decade of life - Progression of symptoms with age MOLECULAR BASIS - Caused by mutation in the ATP-binding cassette, subfamily A, member 4 gene (ABCA4, 601691.0008 ) ▲ Close
- Retinitis Pigmentosa 13 OMIM
  
  The onset of night blindness was between 4 and 10 years of age. By middle age, some patients had diffuse fundal changes and extensive retinal degeneration. The changes were classic midequatorial pigmentation and constricted visual fields at an early age in many patients. The presentation was considered to be that of early-onset adRP with diffuse retinal involvement, i.e., type I(D). ... All affected members complained of nyctalopia with variable age of onset. In the first family, there was marked phenotypic variation, from severe rod-cone dystrophy to normal retinal appearance and mild rod dysfunction on scotopic electroretinography in a 67-year-old patient.
- Retinitis Pigmentosa 23 OMIM
  
  Clinical Features Hardcastle et al. (2000) studied a 5-generation family with an atypical form of retinitis pigmentosa (RP) in which onset of vision loss in males was unusually early, before 2 years of age, and female obligate carriers had normal fundi and waveforms. The proband presented with limited central vision and poor night vision at age 2 years. Upon examination he was able to fix and follow with both eyes; funduscopy showed abnormal grayish macular reflexes and extensive whitish-gray spots throughout the midperiphery of the posterior pole with some areas of coalescence. Examination at 6 years of age revealed eccentric fixation, with visual acuities in the 20/800 range; funduscopy was unchanged except for evidence of retinal arteriole attenuation. At 11 years of age, the boy's visual acuity was limited to counting fingers at 2 to 3 feet and he had markedly constricted peripheral vision; changes in the retinal pigment epithelium (RPE) were nearly confluent in the midperiphery, with small areas of atrophy and a few small patches of intraretinal pigment; retinal arterioles were clearly attenuated in all quadrants, without optic nerve pallor. The proband's maternal uncle was examined at age 21 years and had nondetectable electroretinography (ERG) recordings bilaterally, abnormal color vision, and only residual temporal and inferior fields of vision.
- Retinitis Pigmentosa OMIM
  
  At the beginning of the disease, the hereditary nature of the sporadic forms was difficult to ascertain, especially between 7 and 10 years of age, and only the clinical course could possibly provide information regarding the mode of inheritance. A high level of consanguinity and a preponderance of males in the early-onset, severe sporadic forms (including cone-rod dystrophy) suggested autosomal or X-linked recessive inheritance, while increased paternal age in late-onset forms was suggestive of autosomal dominant mutations. ... In the City of Birmingham, England, Bundey and Crews (1984) found a prevalence of retinitis pigmentosa for all ages of 1 in about 5,000. By clinical, electrophysiologic, and psychophysical criteria, Fishman et al. (1985) discerned 4 types of autosomal dominant RP among 84 patients. ... This model appears to be common to many forms of neurodegeneration and has implications for therapeutic strategies in that the likelihood that a mutant neuron can be rescued by treatment is not diminished by age, and therefore treatment at any stage of illness is likely to confer benefit. ... In the AD, AR and XR types, the average ages of onset were 24.7, 22.9, and 5 years, respectively.
- Retinitis Pigmentosa, Late-Adult Onset OMIM
  
  Grondahl (1987) described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. ... They found 2 main clinical profiles: one type was characterized by precocious onset (mean age, 7.5 years) and severe progression, whereas the second type occurred later (mean age, 17 years) and had a milder clinical course.
- Retinitis Pigmentosa 38 OMIM
  
  The third patient had had poor vision as a child and complained of night blindness at 12 years of age. An examination at an earlier age revealed a nondetectable rod electroretinogram and abnormally reduced visual fields. By age 17 atrophic retinal lesions were noted on ophthalmoscopic evaluation, but retinal blood vessels were not particularly attenuated. ... All affected sibs with retinal degeneration in this family exhibited severe dysfunction of both photoreceptor systems progressing with age, resulting in panretinal disease that involved the macula at an early age. ... Examination at 26 years of age revealed a visual acuity of 1.78 on the LogMAR scale and an inability to recognize any of the plates of the HRR color vision test. ... The unrelated Caucasian man, who noticed nyctalopia at 12 years of age and developed photophobia soon after, was diagnosed with rod-cone dystrophy at age 14.
- Retinitis Pigmentosa 20 OMIM
  
  Onset of severe visual impairment was between 3 and 7 years of age. Night blindness was a typical and early symptom in all patients. ... This 55-year-old Japanese woman, the child of first-cousin parents, had been diagnosed with RP at the age of 40. She had observed the development of night blindness in early childhood and had been free from visual disability until 24 years of age. At the age of 54, she had only basic light-dark perception in both eyes. ... In contrast, the visual performance of several patients in bright light was sufficient to permit attendance at regular school during the elementary years. At older ages, often during the secondary school years, visual acuity was greatly reduced. ... Both diagnostic entities feature attenuated retinal vessels and a variable amount of retinal pigmentation in older patients and a reduced or nondetectable electroretinogram at all ages. There is no universally accepted diagnostic term for those patients with retinal degeneration who lose useful (ambulatory) vision during the first few years of life, with ophthalmologists considering such cases as either LCA or severe RP.
- Retinitis Pigmentosa 45 OMIM
  
  Later, she experienced loss in the peripheral visual field. At 30 years of age, the fundus showed typical bone spicule-shaped pigmentary deposits. ... The patient was a 67-year-old Japanese man who had noticed night blindness at school age. He was diagnosed with retinitis pigmentosa at the age of 30 because of visual field defects. ... The mutation resulted in frameshift and truncation of the protein, with loss of the last 28 amino acids. Fu et al. (2013) screened 31 unrelated Chinese families with autosomal recessive RP for mutations in 163 retinal disease genes and identified homozygosity for a missense mutation at a conserved residue in the CNGB1 gene (P530R; 600724.0003) that segregated with disease in 1 family.
- Retinitis Pigmentosa 47 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-47 (RP47) is caused by homozygous mutation in the S-antigen gene (SAG; 181031) on chromosome 2q37. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Nakazawa et al. (1998) identified 3 unrelated patients with retinitis pigmentosa (RP47) who carried the same homozygous mutation in the SAG gene (181031.0001; see MOLECULAR GENETICS). Patient 1 had a sib with Oguchi disease (258100) associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with golden-yellow reflex in the peripheral fundus.
- Retinitis Pigmentosa 44 OMIM
  
  Clinical Features Using a single-strand conformation technique, Morimura et al. (1999) searched for mutations in the exons and flanking intron sequences of RGR in 182 unrelated patients with dominantly inherited retinitis pigmentosa, 182 with recessive retinitis pigmentosa, 383 with simplex retinitis pigmentosa (sporadic cases), 45 with Leber congenital amaurosis (see 204000), 28 with retinitis punctata albescens (see 136880), 22 with choroidal sclerosis (see 303100), and approximately 95 normal controls. ... One proband with autosomal recessive RP had 4 affected sibs. All affected sibs (aged 35 to 44) had visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium (RPE), and intraretinal pigment deposits in the periphery.
- Retinitis Pigmentosa 57 OMIM
  
  Both scotopic and photopic electroretinograms were severely reduced or completely extinct as early as 4 years of age. Funduscopy showed typical bone spicule-type pigment deposits spread mainly at the midperiphery, as well as optic disc pallor. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Severe, early-onset eye disease - Markedly constricted visual fields - Electroretinograms markedly reduced or completely extinct - Bone spicule pigment deposits in periphery and midperiphery - Attenuation of retinal blood vessels - Optic disc pallor - Lack of foveal reflex - Cystoid macular edema MISCELLANEOUS - Electroretinogram reduction as early as 4 years of age MOLECULAR BASIS - Caused by mutation in the phosphodiesterase-6G, cGMP-specific, rod, gamma gene (PDE6G, 180073.0001 ) ▲ Close
- Retinitis Pigmentosa 4 OMIM
  
  All of those affected reported difficulty with night vision before the age of 10 yeaqrs, and extinguished ERG patterns coupled with funduscopic disturbances were obtained in 4 children aged 6 to 10 years. ... They noted that affected members of this family had a history of night blindness from early childhood and visual field losses were always noted before age 20. Andreasson et al. (1992) concluded that the R135L mutation may cause a more rapidly progressive form of RP than other mutations. ... Patients with RPGR mutations lost Snellen visual acuity at more than twice the mean rate of patients with RHO mutations. The median age of legal blindness was 32 years younger in patients with RPGR mutation than in patients with RHO mutations. ... During early postnatal development, mice heterozygous for the mutated opsin gene appeared to develop normal photoreceptors, but their light-sensitive outer segments never reached normal length. With advancing age, both rod and cone photoreceptors were reduced progressively in number. ... Galy et al. (2005) reported that P37H-transgenic flies, which correspond to the human P23H mutation (180380.0001), exhibited dominant photoreceptor degeneration, mimicking human age-, light-dependent and progressive ADRP.
- Cone-Rod Dystrophy 15 OMIM
  
  The 3 oldest affected sibs reported decreased vision from around 17 years of age. In addition to cone-rod dystrophy, 2 of 3 sibs from the youngest generation also had oculocutaneous albinism (OCA; see 203100), which caused nystagmus and reduced visual acuity from early infancy. ... The amount of pigmentation varied considerably among patients of the same age but showed some correlation to the extent of visual field constriction. ... The first family was a 2-generation consanguineous family of Middle Eastern descent, in which there were 4 affected and 2 unaffected sibs, ranging in age from 32 to 42 years. Nyctalopia was first reported in the late teenage years, and photophobia occurred in the middle of the third decade of life. ... He had onset of night blindness at 18 years of age. Upon examination at 30 years of age, his visual acuity was 0.2 (LogMAR) bilaterally, but deteriorated to hand movements by 46 years of age. ... ERG at age 34 years revealed no detectable rod or cone responses in either eye.
- Leber Congenital Amaurosis 14 OMIM
  
  The third patient was a man who had nystagmus and was diagnosed with retinal degeneration at 3 years of age. He had no electroretinogram (ERG) responses at age 15 and at age 25 had no central vision. ... The first was a woman diagnosed with Leber congenital amaurosis who had onset of disease noted at the age of 2 months, with night blindness and nystagmus but no photophobia. ... The second proband and his affected sister, who were diagnosed with juvenile RP, presented with a history of night blindness from 2 years of age, poorly reactive pupils, and an accommodative esotropia. At 6 years of age, funduscopic examination in the boy showed a normal appearance at the posterior pole with sharp demarcation of the peripheral retina outside the arcades, with striking grainy (salt and pepper) retinal degeneration. Goldmann visual fields (V4e) were 75 degrees at age 7 years and 65 degrees at 9 years of age; visual acuity decreased from 20/70 OU to 20/100 OD and 20/200 OS over that period.
- Retinitis Pigmentosa 74 OMIM
  
  The proband received a diagnosis of RP at age 20 years following complaints of impaired night vision and constricted visual fields. At age 32, her electroretinographic responses were undetectable. At age 49, her visual acuity was at the level of hand motions, and posterior polar cataract and posterior subcapsular opacity were evident. ... Optical coherence tomography revealed severe thinning of the outer nuclear layer and the epiretinal membranes. By age 53, her visual acuity decreased to the level of light perception with partial projection in both eyes.
- Retinitis Pigmentosa 51 OMIM
  
  Medical records of the 4 affected individuals were suggestive of early-onset RP, with diagnoses made between 2 years and 4 years of age. Fundus photographs showed typical changes of RP, including attenuation of retinal arteries and bone spicule pigment deposits in the midperiphery of the retina. ... The proband was a 22-year-old man who had noticed night blindness and photophobia since age 17 years, with loss of central vision at age 18. His affected brother lost central vision at age 16 years, and their cousin had onset of RP at age 2 years with loss of central vision at age 5.
- Retinitis Pigmentosa 54 OMIM
  
  Clinical Features In a 4-generation consanguineous family with retinitis pigmentosa studied by Nishimura et al. (2010), the phenotype was variable in that 6 of 8 affected individuals had adult-onset RP, whereas 2 patients had a much earlier onset of disease, at less than 5 years of age, and had severe generalized dystrophy associated with nystagmus.
- Retinitis Pigmentosa, Y-Linked OMIM
  
  Clinical Features Zhao et al. (1995) reported a 4-generation Chinese family in which retinitis pigmentosa affected only males. All sons of affected males were affected, but all 4 daughters of affected males (and all children of these daughters) were healthy. Inheritance According to Zhao et al. (1995) the probability of autosomal dominant inheritance in the family they reported is only 1:8,192. Therefore, the authors proposed Y-linked inheritance as a possible explanation for the pattern in this family. INHERITANCE - Y-linked HEAD & NECK Eyes - Retinitis pigmentosa MISCELLANEOUS - Based on 1 4-generation Chinese family - Limited clinical information provided ▲ Close
- Retinitis Pigmentosa 46 OMIM
  
  The index case and the other individual, identified in a screen of patients with recessive or simplex retinitis pigmentosa, were evaluated at ages 47 and 38 years, respectively. Both had subnormal visual acuities, concentrically constricted visual fields, fundi typical of retinitis pigmentosa (pale optic discs, attenuated arterioles, and intraretinal pigment deposits), impaired dark adaptation, and reduced electroretinogram amplitudes indicating substantial loss of rod and cone photoreceptor function.
- Retinitis Pigmentosa 79 OMIM
  
  The 56-year-old female proband from family UTAD936, who was diagnosed at age 24 years, had visual fields limited to 10 degrees in all meridians, surrounded by extensive scotomas, but retained sizeable full-field electroretinographic (ERG) responses. ... Onset of reduction in night and peripheral vision ranged from age 5 to 23 years, and disease severity varied from mild pigmentary changes to severe retinal pigment epithelium (RPE) and retinal degeneration. ... Two asymptomatic family members also carried the mutation; examination at ages 37 and 78 showed unaffected vision and no bone-spicule pigmentation.
- Retinitis Pigmentosa 37 OMIM
  
  INHERITANCE - Autosomal dominant - Autosomal recessive HEAD & NECK Eyes - Blue/yellow color vision defect - Red/green color vision defect - Photophobia - Night blindness - Cataract - Cystoid macular degeneration - Pigmentary retinopathy (mixed nummular and spicular type in autosomal dominant cases) - Pigmentary retinopathy (round, irregular clumps of pigment with little or no evidence of bone spicule formation in autosomal recessive cases) - Three concentric rings of hyperautofluorescence - around the fovea, along the vascular arcades, and in the far periphery - Rod-cone dystrophy on ERG (early) - Absent rod-and cone-mediated responses on ERG (late) MISCELLANEOUS - Allelic to enhanced S-cone syndrome ( 268100 ) - Onset of symptoms age 5-30 MOLECULAR BASIS - Caused by mutation in the nuclear receptor subfamily 2, group E, member 3 gene (NR2E3, 604485.0006 ) ▲ Close
- Retinitis Pigmentosa Wikipedia
  
  The efficiency of various supplements, such as vitamin A, DHA , and lutein , in delaying disease progression remains an unresolved, yet prospective treatment option. [28] [29] Clinical trials investigating optic prosthetic devices, gene therapy mechanisms, and retinal sheet transplantations are active areas of study in the partial restoration of vision in retinitis pigmentosa patients. [30] Studies have demonstrated the delay of rod photoreceptor degeneration by the daily intake of 15000 IU (equivalent to 4.5 mg) of vitamin A palmitate ; thus, stalling disease progression in some patients. [31] Recent investigations have shown that proper vitamin A supplementation can postpone blindness by up to 10 years (by reducing the 10% loss pa to 8.3% pa) in some patients in certain stages of the disease. [32] The Argus retinal prosthesis became the first approved treatment for the disease in February 2011, and is currently available in Germany, France, Italy, and the UK. [33] Interim results on 30 patients long term trials were published in 2012. [34] The Argus II retinal implant has also received market approval in the US. [35] The device may help adults with RP who have lost the ability to perceive shapes and movement to be more mobile and to perform day-to-day activities. ... While the psychological prognosis can be slightly alleviated with active counseling [41] the physical implications and progression of the disease depend largely on the age of initial symptom manifestation and the rate of photoreceptor degradation, rather than access to prospective treatments. ... PMID 18441371 . ^ Maguire AM, High KA, Auricchio A, et al. (November 2009). "Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial" . ... "Attitudes regarding predictive testing for retinitis pigmentosa". Ophthalmic Genet . 28 (1): 9–15. doi : 10.1080/13816810701199423 .
- Leber Congenital Amaurosis 4 OMIM
  
  In addition, patients developed bilateral ectasia with central thinning of the cornea before age 20 years. On examination, the central cornea had a pronounced cone shape with severe corneal clouding. ... Aboshiha et al. (2015) compiled data on 42 patients from 18 countries with molecularly confirmed LCA4. The age of the patients ranged from 0.5 to 43 years (median, 8 years); 24 patients were less than 10 years of age and 10 were less than 5 years of age. ... Posterior pole examination findings, which were available for 39 patients, showed a normal posterior pole appearance in 7 (18%, age range 0.5-5 years), with 18 (46%) having retinal pigmentary changes without macular atrophy, and 13 (33%) exhibiting macular atrophy. ... Of 13 patients in whom good optical coherence tomography (OCT) images could be obtained, 3 (23%; aged 1 year or younger) demonstrated significant outer retinal structure, with relative preservation of the inner segment ellipsoid layer and outer nuclear layer at the fovea, and 1 (aged 3 years) demonstrated qualified evidence of a foveal inner segment ellipsoid layer. ... The authors demonstrated restoration of cellular function and preservation of photoreceptor cells and retinal function in Aipl1 h/h mice 28 weeks after subretinal injection of an AAV2/2 vector and in the light-accelerated Aipl1 h/h model and Aipl1-null mice using an AAV2/8 vector.
- Retinitis Pigmentosa 61 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-61 (RP61) is caused by homozygous mutation in the CLRN1 gene (606397) on chromosome 3q25. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Khan et al. (2011) described 2 consanguineous Pakistani families segregating autosomal recessive retinitis pigmentosa. Analysis of the fundus of affected individuals of both families indicated attenuation of the retinal vessels, waxy appearance of the optic disc, and bone spicule pigmentation in the periphery of the retina. ERG analysis revealed that the scotopic responses, which are indicative of the activity of the rod photoreceptors, were more severely diminished than the photopic responses.
- Retinitis Pigmentosa 12 OMIM
  
  Affected members (approximately 40) presented with an early-onset form of retinitis pigmentosa, starting with night blindness before the age of 3 years. Nonrecordable electroretinograms (ERGs) and concentric visual field loss in the first decade were followed in most cases by macular involvement and decreased visual acuity before age 15. Visual acuity at age 30 was 0.2 or less. At funduscopy, pigmentary depositions and atrophy of retinal pigment epithelium (RPE) were seen. ... Both scotopic and photopic ERGs were completely extinct in all affected individuals as early as 4 years of age. Funduscopic findings included typical bone spicule-type pigment deposits, attenuation of the retinal arterioles, and pale appearance of the optic disc. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Retinitis pigmentosa - Night blindness (before age 3 years) - Concentric visual field loss - Nystagmus - Attenuation of retinal arterioles - Bone spicule-type pigment deposits MISCELLANEOUS - Childhood onset MOLECULAR BASIS - Caused by mutation in the homolog of the Drosophila crumbs 1 gene (CRB1, 604210.0001 ) ▲ Close
- Retinitis Pigmentosa 26 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-26 (RP26) is caused by homozygous or compound heterozygous mutation in the CERKL gene (608381), which encodes a ceramide kinase, on chromosome 2q31. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping Bayes et al. (1998) performed linkage analysis in a large nuclear Spanish family with 5 sibs affected by autosomal recessive retinitis pigmentosa (arRP). After excluding several genomic regions containing loci for retinal dystrophies, a genomewide search for linkage was undertaken. Positive lod scores were obtained with markers on chromosome 2q31-q33, defining an interval of about 7 cM for this novel ARRP locus, designated RP26, between D2S148 and D2S161.
- Retinitis Pigmentosa 62 OMIM
  
  Clinical Features Ozgul et al. (2011) studied 8 patients with retinitis pigmentosa who were found to have mutations in the MAK gene. The age at diagnosis in 3 patients was in the third decade of life, whereas the other 5 patients were diagnosed in the fourth through sixth decades of life. ... In 1 family, the unaffected mother had emigrated from Turkey, whereas the unaffected father had emigrated from Russia, suggesting that the founder of the mutation may have lived before the separation of the Sephardic and Ashkenazi groups in the Middle Ages. Tucker et al. (2011) noted that although MAK was originally described as a testis-enriched gene, human fertility appeared to be unaffected by loss of MAK function as the majority of individuals with MAK-associated RP in their study each had 2 or more children.
- Retinitis Pigmentosa 49 OMIM
  
  A number sign (#) is used with this entry because retinitis pigmentosa-49 (RP49) is caused by homozygous or compound heterozygous mutation in the alpha-1 cyclic nucleotide-gated channel gene (CNGA1; 123825) on chromosome 4p12. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Molecular Genetics In a screen of 267 patients with autosomal dominant or autosomal recessive retinitis pigmentosa, Dryja et al. (1995) identified 4 probands with autosomal recessive RP carrying mutations in the CNCG1 (CNGA1) gene. Five mutant sequences cosegregated with the disease among 4 unrelated families with autosomal recessive RP. In 3 of the families, the affected individuals were either homozygous for a mutation or were compound heterozygotes.
- Retinitis Pigmentosa GARD
  
  Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness . As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by mutations in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. Treatment options to slow the progression of vision loss include light avoidance, use of low-vision aids, and vitamin A supplementation.
- Retinitis Pigmentosa 9 OMIM
  
  Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992). ... Using census records, hospital records from the Moorfields Eye Hospital, and telephone interviews with relatives, the authors determined the age of onset and visual outcome of 73 family members. ... Affected individuals had a variable age of onset of symptoms: under 10 years in 2 patients, between 11 and 20 years in 3 patients, and over 21 years in 5 patients. ... The Spanish family became aware of symptoms at a mean age of 12.9 years. Inglehearn et al. (1994) showed by linkage analysis that RP9 is separate from dominant cystoid macular dystrophy (153880), which also maps to 7p but at a distance of approximately 10 cM from RP9. ... INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Retinitis pigmentosa - Constricted visual fields - Night blindness (age of onset from 21 years of age) - Macular edema (in some patients) - Macular atrophy (in some patients) - Cataract (in some patients) - Variable rod and cone responses seen on electroretinogram MISCELLANEOUS - Variable age of onset - Variable disease severity - One 9-generation family and 1 isolated patient described (last curated March 2014) - Mutation in RP9 gene in family ( 607331.0001 ) likely not pathogenic MOLECULAR BASIS - Caused by mutation in the RP9 gene (RP9, 607331.0002 ) ▲ Close
- Retinitis Pigmentosa 1 OMIM
  
  They found that the 2 severely affected members of the UCLA-RP01 family were homozygous for RP1 mutations: 1 had noticeable night blindness at age 6, visual field loss by 8, and severe retinal atrophy and nonrecordable ERGs by age 18. Her youngest brother, examined at age 7, had experienced night blindness since early childhood and already had severe visual field constriction.
- Retinitis Pigmentosa 58 OMIM
  
  All affected individuals had progressive night blindness since the age of 8 to 10 years. Vision in affected individuals was limited to light perception or hand movement with no peripheral vision.
- Retinitis Pigmentosa 50 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-50 (RP50) is caused by heterozygous mutation in the BEST1 gene (607854) on chromosome 11q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping In a nonconsanguineous family of European descent segregating autosomal dominant retinitis pigmentosa, Davidson et al. (2009) performed linkage analysis and obtained a maximum lod score of 2.9 on chromosome 11; haplotype analysis revealed a 64.9-Mb critical region between markers rs536715 and rs17304039, containing the BEST1 gene. Molecular Genetics In the proband of a nonconsanguineous family of European descent segregating autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 11, Davidson et al. (2009) sequenced the candidate gene BEST1 and identified heterozygosity for a missense mutation (I205T; 607854.0022) that was subsequently detected in 9 other affected family members and was absent from 5 unaffected family members. Analysis of BEST1 in a panel of 95 adRP patients who were negative for mutation in 10 known RP genes and in 12 patients with concentric RP revealed heterozygosity for a D228N missense mutation (607854.0023) in affected members of 1 adRP family and 1 concentric RP family, and heterozygosity for a Y227C mutation (607854.0024) in another concentric RP family.
- Retinitis Pigmentosa 67 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-67 (RP67) is caused by homozygous mutation in the NEK2 gene (604043) on chromosome 1q32. One such family has been reported. Description Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms.
- Retinitis Pigmentosa 77 OMIM
  
  All probands presented with nyctalopia, with onset varying from early childhood to 20 years of age. There was a gradual decline in vision, characterized by reduced peripheral visual fields followed by reduced visual acuity. At last review (ages 20 to 54 years), visual acuity ranged from 20/30 to 20/400, and all patients had significantly constricted visual fields, ranging from less than 10 degrees to 30 degrees. ... Electrophysiologic testing in 3 probands showed severe generalized retinal dystrophy, with severely reduced or undetectable responses in 2 individuals in their thirties and severe cone-rod dystrophy in 1 patient at age 15 years. Arno et al. (2016) concluded that the clinical findings were consistent with a diagnosis of RP. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Nyctalopia - Reduced peripheral visual fields, progressive - Reduced visual acuity, progressive - Posterior subcapsular cataracts - Attenuated retinal vessels - Retinal hypopigmentation, midperipheral - Retinal pigment epithelium mottling, midperipheral - Atrophy of retinal pigment epithelium, midperipheral - Intraretinal pigmentary migration ('bone spicules') - Outer retinal atrophy on macular seen on OCT - Centrally preserved inner segment ellipsoid bands seen on OCT - Cystoid macular edema (in some patients) - Parafoveal rings of increased autofluorescence - Widespread midperipheral loss of autofluorescence - Severe rod-cone dystrophy seen on ERG - Severely reduced or undetectable responses seen on ERGs in older patients MISCELLANEOUS - Onset of symptoms ranges from early childhood to age 20 years MOLECULAR BASIS - Caused by mutation in the receptor expression-enhancing protein-6 gene (REEP6, 609346.0001 ) ▲ Close
- Retinitis Pigmentosa 60 OMIM
  
  Clinical Features Tanackovic et al. (2011) described the proband from a 4-generation family of European descent segregating autosomal dominant retinitis pigmentosa, who presented at 37 years of age for evaluation of decreased night vision and loss of peripheral vision. ... Reexamination almost 20 years later at 55 years of age demonstrated progression of disease, with decline in visual acuity to hand motions OD and 20/100 OS, as well as reductions in visual fields and full-field ERG amplitudes; funduscopy at that time showed waxy pallor of the discs bilaterally, atrophy of the retinal pigment epithelium and prominent choroidal vessels in each macula, attenuated retinal vessels, and bone spicule pigment visible in the midperiphery. An affected brother was diagnosed with RP at 16 years of age when he was evaluated for reduced night vision. He reported loss of peripheral vision at around 40 years of age. Although he was 2 years younger than the proband, his vision was always worse than that of his brother and gradually decreased to light perception only in both eyes by age 54 years.
- Retinitis Pigmentosa 56 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-56 (RP56) is caused by homozygous mutation in the gene encoding interphotoreceptor matrix proteoglycan-2 (IMPG2; 607056) on chromosome 3q12. For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Bandah-Rozenfeld et al. (2010) examined 12 patients from 7 families with retinal disease and mutations in the IMPG2 gene. In general, affected individuals with IMPG2 mutations displayed typical symptoms and signs of RP, including night blindness, visual field loss, optic disc pallor, attenuated vessels, and bone-spicule-like pigmentation. In 11 of the 12 patients, lens abnormalities were observed: 7 had posterior subcapsular cataracts, 2 had mild cortical cataracts, 1 had pseudophakia, and 1 patient, who was diagnosed with mild maculopathy (see VMD5, 616152) rather than RP, had mild nuclear sclerosis.
- Retinitis Pigmentosa MedlinePlus
  
  Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye . In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light.
- Retinitis Pigmentosa 76 OMIM
  
  The 78-year-old sister, who became aware of nyctalopia and vision problems at age 12 years, showed visual acuity of 20/80 in the right eye and light-perception only in the left eye, constricted visual fields, and peripapillary atrophy; funduscopy revealed bone spicule pigmentation and attenuated retinal vessels. Her 69-year-old brother, who was aware of vision problems at age 10 years, had visual acuities of 20/100 and very restricted visual fields bilaterally, with bone spicules, narrow retinal vessels, peripapillary atrophy, and a tigroid appearance of the fundus. ... All 17 patients had night blindness, with self-reported age of onset ranging from 12 to 40 years, and all had peripheral visual field loss.
- Retinitis Pigmentosa 73 OMIM
  
  The proband from the first Ashkenazi Jewish family was diagnosed at age 34 years, at which time full-field electroretinography (ERG) responses were undectectable. By age 60, her visual acuity was severely reduced bilaterally, and funduscopy showed severe and extensive atrophic changes of the retina and the retinal pigmented epithelium (RPE). ... Examination of the 2 affected brothers from the other Ashkenazi family at ages 29 and 30 years showed reduced visual acuity, peripapillary atrophy, small macular crystals, and pronounced choroidal vasculature. ... Comprehensive examination of affected individuals from all 3 families revealed no extraocular abnormalities, apart from mild hearing impairment at age 59 years in the Ashkenazi woman. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Night blindness - Visual field constriction - Reduced red color vision (in some patients) - Retinal atrophy - Atrophy of retinal pigmented epithelium (RPE) - Waxy disc pallor - Small crystals in macula and midperiphery - Pronounced choroidal vasculature - Choroidal sclerosis - Bone-spicule pigmentation in the midperiphery - Attenuation of retinal vessels - Diffuse atrophy of RPE on optical coherence tomography (OCT) - Thinning of neurosensory retina in posterior pole on OCT MISCELLANEOUS - Variable age at onset of symptoms (from childhood to the sixth decade of life) MOLECULAR BASIS - Caused by mutation in the heparin-alpha-glucosaminide N-acetyltransferase gene (HGSNAT, 610453.0011 ) ▲ Close
- Retinopathy, Pericentral Pigmentary, Dominant OMIM
  
  Grondahl (1987) diagnosed autosomal dominant pericentral retinal dystrophy in 4 families from northern Norway. Three of these families had a pigmentary retinal degeneration of night blindness starting in the teens and leading to blindness in the sixth and seventh decades of life, after the development of bony spicules, attenuation of retinal blood vessels, and retinal atrophy. Thus, the changes were quite different from those in the sibs reported by Traboulsi et al. (1988); see 268060. Eyes - Pericentral retinal dystrophy - Pigmentary retinal degeneration - Night blindness - Late blindness - Bony spicule pigmentary retinopathy - Attenuation of retinal blood vessels - Retinal atrophy Inheritance - Autosomal dominant ▲ Close
- Retinitis Pigmentosa 71 OMIM
  
  The 38-year-old Dutch man developed night blindness in the first decade of life and was diagnosed with RP at age 23 years. Additional features included preserved foveal lamination, epiretinal membrane, macular cysts, and optic nerve drusen. He had untreated scoliosis at age 11 to 12 years but reported no back problems. ... Clinical Variability Bujakowska et al. (2015) reported 2 sisters, 15 and 22 years of age, with RP as well as systemic features suggesting a Bardet-Biedl-like ciliopathy (BBS; see 209900).
- Retinitis Pigmentosa 69 OMIM
  
  All were diagnosed in their late teens on the basis of night blindness followed by changes in midperipheral visual fields and undetectable responses on full-field electroretinography by approximately 35 years of age. The first was a 50-year-old man of North African Jewish Sephardic descent with unaffected first-cousin parents.
- Retinitis Pigmentosa 82 With Or Without Situs Inversus OMIM
  
  Clinical Features Davidson et al. (2013) studied a consanguineous family of Arab Muslim origin in which 3 sibs were diagnosed with retinitis pigmentosa (RP) in their 20s, after complaints of night vision and visual field impairment. At 36 years of age, the oldest sib could detect hand motion with her right eye and had bare light perception with her left eye, with no significant refractive errors. ... Audo et al. (2017) reported a consanguineous Moroccan family in which 2 sisters (CIC01154 and CIC01155) were diagnosed in their teens with moderately severe rod-cone dystrophy. At age 36 years, best-corrected visual acuity (BCVA) in 1 sister was 20/200 on the right and counting fingers on the left, with visual fields below 10 degrees. The other sister, at age 27 years, had BCVA of 20/25 in both eyes and visual fields reduced to 30 degrees.
- Retinitis Pigmentosa 29 OMIM
  
  All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age of 20 years, loss of central vision between the ages of 25 and 30 years, and complete blindness between the ages of 40 and 50 years. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Retinitis pigmentosa - Constricted visual fields by age 20 years - Night blindness by age 20 years - Loss of central vision between ages 25-30 years - Complete blindness between ages 40-50 years - Fundus pigment lumps, bone-corpuscle/bone-spicule pattern - Attenuation of retinal blood vessels - Obliteration of peripheral retinal blood vessels (in some patients) - Pallid optic disc MISCELLANEOUS - One family reported (last curated July 2008) ▲ Close
- Retinitis Pigmentosa 32 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Zhang et al. (2005) identified a severe form of retinitis pigmentosa (RP) in a large consanguineous Pakistani family, in which all affected individuals had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular degeneration. Mapping After exclusion of known RP loci in a consanguineous Pakistani family, Zhang et al. (2005) performed a genomewide scan which showed linkage to markers in a 10.5-cM region of chromosome 1p21.2-p13.3, between D1S2896 and D1S457. The highest lod score, 6.54 at theta = 0.0, was obtained at D1S485. Zhang et al. (2005) noted that this locus, designated RP32, lies approximately 4.9 cM from the ABCA4 gene (601691), which was excluded from the linked region.
- Retinitis Pigmentosa 7 OMIM
  
  One daughter developed patterned macular dystrophy (169150) at age 31 years. At age 44 years, her ERG was moderately abnormal, but her clinical disease was limited to the macula. Another daughter presented at age 42 years with macular degeneration; over 10 years, she developed a clinical picture consistent with fundus flavimaculatus. ... A son had onset of macular degeneration at age 44 years. Pericentral scotomas were present and ERG was markedly abnormal. ... In a 75-year-old woman who developed progressive retinitis pigmentosa at 63 years of age, Weleber et al. (1993) identified heterozygosity for a 3-bp deletion in the RDS gene (179605.0017). She had 3 affected children with various eye phenotypes who were also heterozygous for the RDS mutation, including a 44-year-old daughter diagnosed with patterned macular dystrophy at age 31 (169150), a 49-year-old son who had onset of macular degeneration at age 44 years, and a 50-year-old daughter with progressive macular degeneration from age 42 who exhibited a clinical picture consistent with fundus flavimaculatus (see 248200).
- Retinitis Pigmentosa 2 OMIM
  
  Some carrier women showed fundus abnormalities with visual impairment beginning in middle age and probably showing progression. ... Kaplan et al. (1990) suggested that phenotypically there are 2 forms of X-linked RP: one form has very early onset with severe myopia (mean age of onset = 3.5 years; 1 SD = 0.05); the other form starts later with night blindness with or without mild myopia (mean age of onset = 10.6 years; 1 SD = 4.1). ... Patients in the first family showed very similar age and mode of onset of the disease, exhibiting early severe myopia and macular rearrangements with preservation of the peripheral retina, but flat electroretinographic (ERG) responses before the age of 6 years. The proband in the second family presented at age 4 with jerk nystagmus, high bilateral myopia, diffuse retinal pigment epithelium (RPE) atrophy, and normal ERG recordings. ... The opposite X-inactivation pattern was found in a carrier female, aged 45 years, who gave normal findings on eye examination.
- Retinitis Pigmentosa 43 OMIM
  
  A number sign (#) is used with this entry because this form of retinitis pigmentosa (RP43) is caused by homozygous or compound heterozygous mutation in the PDE6A gene (180071), encoding the alpha subunit of cGMP phosphodiesterase, on chromosome 5q31-q33. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. Clinical Features Huang et al. (1995) studied 2 unrelated families segregating autosomal recessive retinitis pigmentosa (RP). Affected individuals reported night blindness since early childhood. Visual field testing revealed marked peripheral field loss. Fundus examination showed abnormalities typical of RP including waxy pallor of the optic discs, attenuated retinal vessels, Corton et al. (2010) described a 5-generation consanguineous Spanish pedigree segregating autosomal recessive RP, in which 3 sibs and their nephew exhibited common symptoms such as bilateral vision impairment and night blindness from early childhood, abolished electroretinogram (ERG) responses, and fundus features typically associated with RP, including optic disc pallor, attenuated vessels, and intraretinal clumping of pigment.
- Retinitis Pigmentosa 33 OMIM
  
  Affected individuals developed night blindness at about 16 to 18 years of age. Subsequently, visual acuity gradually decreased with accompanying progressive loss of peripheral visual fields. ... Li et al. (2010) examined 12 affected members of a 4-generation Chinese family segregating nonsyndromic autosomal dominant RP. The average age at onset was 7 to 8 years, although some individuals were affected slightly later, at 10 to 11 years of age. ... The visual fields of affected individuals progressively narrowed with age, eventually leading to loss of peripheral vision with relative preservation of central vision, even in a 14-year-old girl. ... Night blindness was always the presenting symptom and the age at onset was between 10 and 15 years.
- Retinitis Pigmentosa 3 OMIM
  
  Three young males when first tested at age 7 months and 11 years had nonrecordable electroretinograms and severely constricted visual fields. ... Souied et al. (1997) described 9 families that showed an X-linked pattern of inheritance with a total of 28 affected males and 34 affected females. ... The males had a delayed onset of disease, with central vision being preserved until 40 to 45 years of age. Linkage to the RP3 locus was demonstrated, but SSCP and sequence analysis of the RPGR gene demonstrated no mutations. ... Patients with RPGR mutations lost Snellen visual acuity at more than twice the mean rate of patients with RHO mutations. The median age of legal blindness was 32 years younger in patients with RPGR mutation than in patients with RHO mutations. ... Rozet et al. (2002) noted that the age at onset in affected females was delayed compared to affected males (20 to 40 years vs 10 to 20 years, respectively).
- Retinitis Pigmentosa 27 OMIM
  
  Patients almost invariably develop macular thickening, frequently with a mild reduction in visual acuity, between ages 15 and 30 years. As the disease progresses, a substantial loss of visual acuity is usually observed, typically in association with the development of a bull's-eye pattern of macular atrophy. ... In addition, the proband's sister and a cousin carried the mutation but remained asymptomatic at ages 37 and 45 years, respectively. Hernan et al. (2012) suggested that the NRL mutation might not be the sole cause of RP in this family; however, analysis of 550 retinal candidate genes by DNA capturing and massive next-generation sequencing did not reveal any other genomic variation that cosegregated with RP in the family.
- Retinitis Pigmentosa 84 OMIM
  
  All of the sibs had developed night blindness at 4 years of age, and all were completely blind (no light perception). ... Affected members of both families, all of whom were older than age 20 years at the time of report, developed night blindness between ages 3 and 4 years and complete blindness between ages 7 and 8 years. ... In family MA88, the 3 affected males were diagnosed with bilateral cataracts at age 6 years; of the 2 affected females, one developed cataracts at age 19 years and the other did not have cataracts at age 20. In family MA157, all 6 affected members (5 males and 1 female) developed cataracts by about age 10 years. Funduscopy in the 3 affected females showed macular atrophy, attenuation of arteries, and clustered area of intraretinal pigment on the periphery. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Retinitis pigmentosa - No light perception (in some patients) - Macular atrophy - Attenuated vessels - Intraretinal pigment on periphery - Macular coloboma (in some patients) - Cataracts (in some patients) MISCELLANEOUS - Age of onset between 3-4 years - Onset of blindness between 7-8 years MOLECULAR BASIS - Caused by mutation in the DEAH box polypeptide gene 38 (DHX38, 605584.0001 ) ▲ Close
- Retinitis Pigmentosa 63 OMIM
  
  Clinical Features Kannabiran et al. (2012) described a large Indian family in which 14 of 34 individuals studied had retinitis pigmentosa. Age at presentation ranged from 16 to 65 years, and in most cases the initial symptoms consisted of night blindness associated with blurred vision. ... Haplotype analysis in this family indicated a disease-cosegregating region of 28 cM (34 Mb). Kannabiran et al. (2012) stated that the mapped interval contained more than 100 genes, among which there were no known RP genes. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Night blindness - Blurred vision - Good visual acuity - Degeneration of retinal pigment epithelium (relatively less involvement of central retina) - Arterial attenuation - Disc pallor - Pigment migration - Diminished or extinguished responses on electroretinography MISCELLANEOUS - Age at onset ranges from 16 years to 65 years ▲ Close
- Retinitis Pigmentosa 36 OMIM
  
  The patient was born of first-cousin parents with normal vision and had 4 unaffected sibs, 1 brother who became blind at a young age, and 2 other sibs with uncharacterized vision problems. ... Both scotopic and photopic electroretinograms (ERGs) were nonrecordable in all tested individuals, as early as 6 years of age. Typical bone spicule-type pigment deposits were noted in most patients. ... Analysis of 17 additional affected individuals and 28 unaffected relatives from 9 families revealed homozygosity for R22X in all affected individuals but in none of the unaffected family members.
- Leber Congenital Amaurosis 3 OMIM
  
  His brother had a milder phenotype with onset of nystagmus at 8 weeks of age. He was able to fix and follow at this age. ... These symptoms deteriorated significantly from 14 years of age. Nomenclature Leber congenital amaurosis-13 (612712), which is caused by mutation in the RDH12 gene (608830) on chromosome 14q23.3, was originally thought to be the same as LCA3.
- Retinitis Pigmentosa 25 OMIM
  
  Affected individuals experienced night blindness, beginning at approximately 25 years of age, and deterioration of visual acuity (central vision), beginning at approximately 30 years of age. By age 55 to 60 years, many affected subjects had no perception of light in either eye. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Night blindness - Photophobia - Retinal bone-spicule pigmentation - Attenuated retinal vessels - Constriction of visual field - Optic disc pallor - Chorioretinal atrophy (in some patients) - Posterior subcapsular cataract (in some patients) - Nonrecordable ERG response (in most patients) MISCELLANEOUS - Variable age at onset (range 12-46 years) - One patient in an RP family was identified with a cone-rod phenotype on ERG MOLECULAR BASIS - Caused by mutation in the homolog of the Drosophila eyes shut gene (EYS, 612424.0001 ) ▲ Close
- Retinitis Pigmentosa 10 OMIM
  
  Clinical Features Jordan et al. (1993) reported a Spanish family with retinitis pigmentosa showing relatively early onset of symptoms (mean age of onset, 12.9 years). Coussa et al. (2015) reported a 40-year-old French Canadian man with retinitis pigmentosa.
- Retinitis Pigmentosa 30 OMIM
  
  Fundus examination of affected members of 3 generations of 1 family disclosed the progression of retinal degeneration with increasing age. In the early stage, a 10-year-old patient showed a mottled appearance of the retinal pigment epithelium (RPE) and attenuation of the retinal vessels. ... In the second family, the 26-year-old proband noted decreased visual acuity in childhood and was diagnosed with retinal degeneration at 8 years of age. Fundus examination at age 13 showed mildly demarcated atrophic macular degeneration associated with diffuse mottling of the retina in the midperiphery bilaterally, with areas of hyper- and hypofluorescence corresponding to RPE atrophy and chorioretinal atrophy, respectively. ... He experienced accelerated deterioration of central visual acuity after age 13, and examination at age 24 showed atrophic macular degeneration with progression of pigmentation in both eyes. ... At 15 years of age, fundus examination showed tortuous vessels, reddish optic discs, mottling of RPE bilaterally, and pigmentation in the left macula; the atrophic lesions had enlarged slightly since age 8. ... Homozygotes or heterozygotes for either mutation were morphologically normal, viable, and fertile, but exhibited progressive photoreceptor degeneration with increasing age by light microscopy. Structural abnormalities of the outer segment of the retina were detected by transmission electron microscopy, and electroretinography documented depressed rod and cone responses that also worsened with increasing age.
- Retinitis Pigmentosa 34 OMIM
  
  Four affected individuals who were examined described onset of night blindness, and some described color vision difficulties in the second decade of life, with the earliest at 13 years of age. Indirect ophthalmoscopy revealed peripheral bone spicules, waxy pallor of the optic nerve, and attenuated retinal blood vessels in all patients.
- Retinitis Pigmentosa 22 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping Finckh et al. (1998) collected DNA samples from 20 large consanguineous Indian families in which autosomal recessive retinitis pigmentosa (arRP) segregated and that were suitable for homozygosity mapping of the disease locus. After excluding linkage to all known arRP loci, a genomewide scan was initiated. In 2 families, homozygosity mapping, haplotype analysis, and linkage data mapped the disease locus (RP22) in an approximately 16-cM region between D16S287 and D16S420 on the proximal short arm of chromosome 16. The location of RP22 was given as 16p12.3-p12.1. Molecular Genetics By direct sequencing, Finckh et al. (1998) found no mutation in the CRYM gene (123740), which encodes mu crystallin and maps to the same region.
- Retinitis Pigmentosa 24 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Gieser et al. (1998) described a 5-generation family with X-linked retinitis pigmentosa designated RP24. Affected males (hemizygotes) had early onset of rod photoreceptor dysfunction; cone-receptor function was normal at first, but there was progressive loss. Patients at advanced stages showed little or no detectable rod or cone function and had clinical hallmarks of typical RP. Mapping Gieser et al. (1998) demonstrated linkage of X-linked retinitis pigmentosa in a 5-generation family to Xq26-q27.
- Retinitis Pigmentosa 78 OMIM
  
  All presented in their third to fourth decades with central visual disturbance, visual field defects, and mild nyctalopia. Examination at ages 37, 38, and 51 years, respectively, revealed visual acuities ranging from 20/30 to 20/1250, with the worst in the oldest individual (patient 2; GC3626). ... Full-field electroretinography (ERG) at ages 29 to 30 years demonstrated severe generalized retinal dysfunction, affecting rod more than cone photoreceptors. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Reduced visual acuity - Mild nyctalopia - Photopsia - Visual field defects - Optic disc pallor - Attenuated retinal vessels - Cystoid macular edema - Irregular midperiphery intraretinal pigment migration - Widespread irregular peripheral hypo-autofluorescence - Intraretinal cysts on optical coherence tomography (OCT) - Severe generalized retinal dysfunction involving rods more than cones seen on electroretinography (ERG) - Subnormal to undetectable pattern seen on ERG MISCELLANEOUS - Onset of symptoms in the third decade of life - Progression of disease with age MOLECULAR BASIS - Caused by mutation in the Rho guanine nucleotide exchange factor 18 gene (ARHGEF18, 616432.0001 ) ▲ Close
- Retinitis Pigmentosa 17 OMIM
  
  Reduction in night and peripheral vision manifested at around age 15, followed by rod photoreceptor atrophy, bone spicule pigmentation, and concomitant cone photoreceptor dysfunction manifested by photophobia, color vision changes, and decreased central vision.
- Retinitis Pigmentosa 75 OMIM
  
  Clinical Features Kastner et al. (2015) studied a consanguineous Turkish family in which 2 sisters and a brother had retinitis pigmentosa with onset between 7 and 12 years of age. All 3 exhibited tunnel vision and night blindness; other features included myopia in 1 sister and mixed astigmatism in the brother.
- Retinitis Pigmentosa 83 OMIM
  
  The 57-year-old Norwegian father had onset of nyctalopia at age 6 years, with narrowing of visual fields in early adulthood, and reduced central vision in the fourth decade of life. The diagnosis of RP was verified by electroretinography (ERG) at age 39, which showed extinguished scotopic and photopic responses. Visual acuity at age 38 was 20/80 bilaterally; by age 52, it was 20/125 to 20/200. Bilateral subcapsular cataracts were removed at ages 46 and 55. Examination at age 57 showed mild asteroid hyalosis in the right vitreous and bilateral severe degeneration of the peripheral and posterior poles of the retina. ... The proband's son showed pigment changes in the retina at age 16 years and reported some difficulty with night vision but normal peripheral vision.
- Retinitis Pigmentosa 80 OMIM
  
  Clinical Features Xu et al. (2015) studied a 43-year-old Han Chinese man who developed night blindness in childhood and vision loss at age 36 years. Fundus images showed widespread retinal bone spicule pigmentation with a 'gold foil' macular reflex. ... Hull et al. (2016) described 8 patients from 5 unrelated families with nonsyndromic retinitis pigmentosa and biallelic mutations in the IFT140 gene (see MOLECULAR GENETICS). Age of onset ranged from 2 years to early 30s, with night blindness or difficulty with dark and light adaptation as the presenting symptom. ... One of the patients was a 67-year-old British man who also had progressive hearing loss from 4 years of age, for which he wore hearing aids. ... The fundus appeared grossly normal in children under 1 year of age, many of whom showed photophilia (staring at light). RPE changes and arteriolar attenuation were evident after age 2 years, at which time eye-rubbing (oculodigital sign) became common.
- Retinopathy, Pericentral Pigmentary, Autosomal Recessive OMIM
  
  Sandberg et al. (2005) studied 18 patients, aged 32 to 65 years, with pericentral retinitis pigmentosa with follow-up for 3 to 26 years.
- Retinitis Pigmentosa 68 OMIM
  
  Visual acuity in both eyes progressively decreased to hand motion only by 35 years of age. Fundus photography and optical coherence tomography (OCT) revealed typical intraretinal bone-spicule pigmentation, large spots of retinal atrophy, and overall thinning of the outer retinal layer. ... Jin et al. (2014) also generated Slc7a14-deficient mice, which had abnormal responses on ERG at ages 2 months and 6 months; OCT showed a trend toward reduced thickness of the outer retina in 2.5-month-old knockout mice, and histology confirmed a slightly thinner retinal layer.
- Cone-Rod Dystrophy 16 OMIM
  
  Four patients from 2 families were diagnosed with cone-rod dystrophy, and 2 patients from 2 families were diagnosed with retinitis pigmentosa with early macular involvement. Age at presentation ranged from infancy to late teens. The patients all showed early involvement of the macula, resulting in loss of central vision at an early age: none had visual acuity better than 20/60 and 1 patient had light perception only. ... Katagiri et al. (2016) described a Japanese brother and sister who had loss of visual acuity during childhood. On initial examination at ages 43 years and 37 years, respectively, both patients showed severely decreased visual acuity, high myopia, chorioretinal degeneration with macular atrophy, severely constricted visual fields, and nonrecordable ERG responses. ... Impaired vision was first noted at 5 to 6 years of age, and ERGs in the second decade of life showed absent cone response with markedly reduced rod response.
- Retinitis Pigmentosa 42 OMIM
  
  ERG recordings from 10 RP patients in different age groups from a 6-generation family ('family 72') revealed that cone b-wave amplitude decreased with age but implicit time did not, suggesting that amplitude is useful for monitoring the progression of disease whereas implicit time is more suitable for distinguishing different types of disease. Andreasson (1991) found a correlation between age and the log of the amplitude in family 72, with a progression rate of 7.7% per year, corresponding to a half-life of 8.7 years; this was substantially slower than the previously reported average for all RP cases (18%; Berson et al., 1985). ... In general, visual acuity reduction did not manifest until 50 years of age, and best-corrected visual acuity was 20/50 or better in at least 1 eye, up to age 65 years. ... Static and kinetic visual fields showed concentric constriction to central 10 degrees to 20 degrees by age 65 years. Two patients exhibited bilateral visual field retention in the far periphery on Goldmann perimetry testing. ... Spectral-domain optical coherence tomography indicated retention of foveal inner segment-outer segment junction through age 65 years. Wen et al. (2011) concluded that mutations in KLHL7 are associated with a late-onset form of autosomal dominant retinal degeneration that preferentially affects the rod photoreceptors, and suggested that strong retention of foveal function and bilateral concentric constriction of visual fields with far periphery sparing might guide mutation screening in autosomal dominant RP.
- Leber Congenital Amaurosis 13 OMIM
  
  The electroretinogram was extinguished at the time of first investigation (as early as 5 and 6 years of age in 2 of the individuals). In a study of 4 patients with LCA13, Jacobson et al. (2007) found that the retinal architecture was appreciably distorted, precluding identification of the normal laminae. ... Retinitis Pigmentosa 53 Fingert et al. (2008) studied 35 members of a 6-generation family segregating autosomal dominant retinitis pigmentosa and identified 19 clinically affected individuals who had retinal findings typical of RP, including intraretinal bone spicule-like pigmentation and attenuation of retinal arterioles. The average age at diagnosis was 28.5 years (range, 12-43 years). ... Benayoun et al. (2009) described a large, highly consanguineous pedigree segregating autosomal recessive early-onset retinitis pigmentosa, affecting 17 individuals from 10 sibships. The age at diagnosis ranged from 18 months to 35 years, but most were diagnosed within the first decade of life.
- Retinitis Pigmentosa 59 OMIM
  
  He made no eye contact and had poor feeding with failure to thrive. Ophthalmologic examination at age 2 months showed pale papillae and there was no response on ERG; he also had sensorineural deafness. The infant died at age 8 months during an episode of status epilepticus.
- Retinitis Pigmentosa 85 OMIM
  
  Clinical Features Zhou et al. (2018) studied 2 distantly related Indian boys with retinitis pigmentosa, aged 8 years (RD-ICP-79) and 10 years (RD-ICP-78), from a large consanguineous family.
- Retinitis Pigmentosa 41 OMIM
  
  Atrophy of the choriocapillaris and posterior retinal pigment epithelium allowed visualization of the large choroidal vessels in patients over age 40 years. None of the affected individuals had polydactyly or other systemic abnormalities.
- Retinitis Pigmentosa 31 OMIM
  
  Onset of symptoms ranged from 10 to 50 years of age and differed between the generations.
- Retinitis Pigmentosa 40 OMIM
  
  Two family members who were doubly heterozygous for both mutations were unaffected at ages 82 and 65 years, respectively. INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Retinitis pigmentosa - Intraretinal bone-spicule pigment - Attenuated retinal vessels - Absent night vision - Abnormal rod and cone electroretinograms MOLECULAR BASIS - Caused by mutation in the retinal rod photoreceptor cGMP phosphodiesterase, beta subunit gene (PDE6B, 180072.0001 ) ▲ Close
- Retinal Dystrophy And Obesity OMIM
  
  The proband was an 18-year-old male who presented at age 11 with a 2-year history of deteriorating vision, at which time he had no perception of light in the left eye and decreased visual acuity (20/40) in the right eye. Examination revealed a bilateral myopic and astigmatic refractive error, with a 'blonde' fundus on the right and total retinal detachment with vitreous hemorrhage on the left. At 18 years of age, visual acuity was measured at 20/30 on the right with no light perception on the left, and bilateral myopic and astigmatic refractive errors were confirmed. ... The older brother had a BMI in the normal range, whereas the younger sister was classified as obese, falling into the 98th percentile for age and gender. Their parents and 2 older sisters had no ocular symptoms and normal fundi on examination; the father was obese with a BMI of 30.
- Retinitis Pigmentosa 70 OMIM
  
  Clinical Features Chen et al. (2014) reported a 3-generation Chinese family segregating autosomal dominant retinitis pigmentosa (RP). The proband presented at age 15 years with poor night vision, and subsequently developed visual field (VF) restriction and impaired central vision. At age 58, he had bilateral cataracts and a typical RP fundus, exhibiting retinal degeneration with macular involvement, waxy pallor of the optic disc, narrowed vasculature, and peripheral pigment deposits. ... A sister and brother developed night blindness at 27 and 24 years of age, respectively, and at 66 and 47 years, they showed findings similar to those of the proband, including poor night vision, poor central visual acuity, severely reduced VFs, typical RP fundus appearance, and nearly undetectable ERG responses. ... Chen et al. (2014) also described a Chinese man who developed night blindness at 20 years of age, with constricted VFs and decreased visual acuity by 37 years. At age 53, he had severely impaired visual acuity, significantly restricted VFs, undetectable ERG responses, and a typical RP fundus.
- Retinitis Pigmentosa 6 OMIM
  
  For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Mapping Two separate loci for X-linked recessive retinitis pigmentosa have been mapped to the short arm of the X chromosome, RP2 at Xp11.4-p11.23 (312600) and RP3 at Xp21.1 (300029). On the basis of different linkage relationships, it has been suggested that there is a third RP locus on Xp, designated RP6 and thought to be located at Xp21.3-p21.2. Ott et al. (1990) performed a multilocus linkage analysis of 62 family pedigrees with X-linked RP. In 60 to 75% of the families, location of an XLRP gene was estimated at 1 cM distal to OTC, and in 25 to 40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the 2 XLRP loci.
- Retinitis Pigmentosa 18 OMIM
  
  A number sign (#) is used with this entry due to evidence that this form of retinitis pigmentosa, designated RP18, is caused by heterozygous mutation in the PRPF3 gene (607301) on chromosome 1q21. For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. Clinical Features Xu et al. (1996) studied a large Danish family of 7 generations in which autosomal dominant retinitis pigmentosa segregated. Clinical diagnosis was based on a history of night blindness and ocular fundus findings typical of retinitis pigmentosa and included peripheral bone spicule formation, severe constriction of retinal arterioles, and progressive visual field defects beginning as midperipheral ring scotomas. Pathologic dark adaptation did not occur until the end of the first decade.
- Retinitis Pigmentosa 11 OMIM
  
  Of the 15 patients who were studied from 3 of the families (families 1, 3, and 4), 14 had early onset of night blindness, 10 before age 10 years and 4 before age 20 years, and evidence of severe disease. ... Waseem et al. (2007) identified 6 PRPF31 mutations, 4 of which were novel, in a cohort of 118 patients with autosomal dominant RP in the U.K., including members of family RP1907 described by Al-Maghtheh et al. (1996). The age of onset and the severity of the disease varied with different mutations, and individuals carrying the same mutation showed a range of phenotypic variation, suggesting the involvement of other modifying genes.
- Retinitis Pigmentosa 14 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-14 (RP14) is caused by homozygous or compound heterozygous mutation in the TULP1 gene (602280) on chromosome 6p21. Mutation in TULP1 can also cause a form of Leber congenital amaurosis (LCA15; 613843) as well as juvenile retinitis pigmentosa (see 613843). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa and juvenile RP, see 268000. Mapping In a large pedigree from the Dominican Republic showing segregation for autosomal recessive retinitis pigmentosa, Knowles et al. (1994) demonstrated linkage to microsatellite markers on 6p. The results of 2-point and multipoint analyses suggested that the most likely location of the disease gene is near D6S291, which is located approximately 20 cM telomeric of the photoreceptor peripherin locus (PRPH2; 179605).
- Retinitis Pigmentosa Orphanet
  
  There is however broad variability in age of onset, rate of progression and secondary clinical manifestations. ... Central visual acuity loss may occur at any age as a result of cystoid macular edema or photoreceptor loss. Posterior subcapsular cataracts are common and severity is age dependent. Reduced color vision may also be found.
Spermatogenic Failure 28 OMIM

A number sign (#) is used with this entry because of evidence that spermatogenic failure-28 (SPGF28) is caused by homozygous or compound heterozygous mutation in the FANCM gene (609644) on chromosome 14q21. Description Spermatogenic failure-28 is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018). ... Clinical Features Kasak et al. (2018) studied 2 Estonian brothers, aged 26 and 29 years, who had been diagnosed with idiopathic nonobstructive azoospermia.

FANCM
- Fanconi Anemia MedlinePlus
  
  Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells , which fight infections; and platelets , which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia ). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia ), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.
Abortion In Nepal Wikipedia

In fact about 20% of women prisoners were imprisoned for abortion-related choices. [6] According to the law women had access to legal abortion only under the following conditions · The pregnancy must be under 12 weeks of gestation. If the woman is above 16 years of age, she does not require the permission of her husband or her guardian. · In the case of rape or incest, the pregnancy must be under 18 weeks of gestation. · If recommended by the doctor, at any stage of the pregnancy if it poses danger to the physical or mental health of the pregnant woman or if the foetus suffers from severe physical deformity. [7] References [ edit ] ^ Worrell, Marc. ... Women on Waves . Retrieved 2018-09-28 . ^ Bhandari, T. R.; Dangal, G. (2015-08-17). ... PMID 28825899 . ^ "Vacuum Aspiration for Abortion | CS Mott Children's Hospital | Michigan Medicine" . www.mottchildren.org . Retrieved 2018-09-28 . ^ "10 Things You Should Know about Abortion Service in Nepal" . The ASAP Blog . 2015-08-24 . Retrieved 2018-09-28 . ^ Wu, Wan-Ju; Maru, Sheela; Regmi, Kiran; Basnett, Indira (June 2017). ... Women on Waves . Retrieved 2018-09-28 .
Immunodeficiency 28 OMIM

A number sign (#) is used with this entry because immunodeficiency-28 (IMD28) is caused by homozygous or compound heterozygous mutation in the IFNGR2 gene (147569) on chromosome 21q22. ... Both parents and 1 of 2 sibs were heterozygous for the mutation, but they did not develop disease. The affected child died at age 5 years of disseminated M. avium disease in spite of treatment with multiple antimycobacterial drugs.

IFNGR2
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency Orphanet
  
  Clinical description Severe and often fatal BCG and EM infections begin in early childhood (before the age of 3). The most common pathogens seen in patients include Mycobacterium fortuitum , Mycobacterium bovis BCG, Mycobacterium abscessus and Mycobacterium avium . ... Prognosis Prognosis is poor with most patients not living past 10 years of age.
- Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency Orphanet
  
  Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Epidemiology The prevalence is unknown. Only one patient has been reported with this variant to date. Clinical description The patient presented with a mild infection caused by BCG and M. abscessus . Etiology Autosomal recessive MSMD due to partial IFNgammaR2 deficiency is caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production.