A number sign (#) is used with this entry because of the demonstrated role of multiple genes in determining the genetic susceptibility for alcoholism that is supported by family, twin, and other studies. See MOLECULAR GENETICS. Inheritance The tendency for drinking patterns of children to resemble those of their parents has been recognized since antiquity, e.g., in the observations of Plato and Aristotle (Warner and Rosett, 1975). Alcoholism is probably a multifactorial, genetically influenced disorder (Goodwin, 1976). The genetic influence is indicated by studies showing that (1) there is a 25 to 50% lifetime risk for alcoholism in sons and brothers of severely alcoholic men; (2) alcohol preference can be selectively bred for in experimental animals; (3) there is a 55% or higher concordance rate in monozygotic twins with only a 28% rate for like-sex dizygotic twins; and (4) half brothers with different fathers and adopted sons of alcoholic men show a rate of alcoholism more like that of the biologic father than that of the foster father. A possible biochemical basis is a metabolic difference such that those prone to alcoholism have higher levels of a metabolite giving pleasurable effects or those not prone to alcoholism have higher levels of a metabolite giving unpleasant effects.

"Alcoholic" redirects here. For alcoholic beverages, see alcoholic drink . For the song by Starsailor, see Alcoholic (song) . Problematic alcohol consumption Alcoholism Other names Alcohol addiction, alcohol dependence syndrome, alcohol use disorder (AUD) [1] "King Alcohol and His Prime Minister" c. 1820 Specialty Psychiatry , clinical psychology , toxicology , addiction medicine Symptoms Drinking large amounts of alcohol over a long period, difficulty cutting down, acquiring and drinking alcohol taking up a lot of time, usage resulting in problems, withdrawal occurring when stopping [2] Complications Mental illness , delirium , Wernicke–Korsakoff syndrome , irregular heartbeat , cirrhosis of the liver , cancer , fetal alcohol spectrum disorder , suicide [3] [4] [5] [6] Duration Long term [2] Causes Environmental and genetic factors [4] Risk factors Stress , anxiety, inexpensive, easy access [4] [7] Diagnostic method Questionnaires, blood tests [4] Treatment Alcohol detoxification typically with benzodiazepines , counselling, acamprosate , disulfiram , naltrexone [8] [9] [10] Frequency 380 million / 5.1% adults (2016) [11] [12] Deaths 3.3 million / 5.9% [13] Alcoholism is, broadly, any drinking of alcohol that results in significant mental or physical health problems. [14] Alcoholism is not a recognized diagnostic entity. Predominant diagostic classifications are alcohol use disorder [2] ( DSM-5 ) [4] or alcohol dependence ( ICD-11 ). [15] Excessive alcohol use can damage all organ systems, but it particularly affects the brain, heart, liver, pancreas and immune system . [4] [5] Alcoholism can result in mental illness , delirium tremens , Wernicke–Korsakoff syndrome , irregular heartbeat , an impaired immune response, liver cirrhosis and increased cancer risk . [4] [5] [16] Drinking during pregnancy can result in fetal alcohol spectrum disorders . [3] Women are generally more sensitive than men to the harmful effects of alcohol, primarily due to their smaller body weight, lower capacity to metabolize alcohol, and higher proportion of body fat. [11] In a small number of individuals, prolonged, severe alcohol abuse ultimately leads to frank dementia . Environmental factors and genetics are two factors affecting risk for alcoholism, with about half the risk attributed to each. [4] Someone with a parent or sibling with alcoholism is three to four times more likely to become an alcoholic themselves, but only a minority of them do. [4] Environmental factors include social, cultural and behavioral influences. [17] High stress levels and anxiety, as well as alcohol's inexpensive cost and easy accessibility, increase the risk. [4] [7] People may continue to drink partly to prevent or improve symptoms of withdrawal. [4] After a person stops drinking alcohol, they may experience a low level of withdrawal lasting for months. [4] Medically, alcoholism is considered both a physical and mental illness. [18] [19] Questionnaires are usually used to detect possible alcoholism. [4] [20] Further information is then collected to confirm the diagnosis. [4] Prevention of alcoholism may be attempted by regulating and limiting the sale of alcohol (particularly to minors), taxing alcohol to increase its cost, and providing education and inexpensive treatment. Prohibition did not work. [21] Treatment of alcoholism may take several forms. [9] Due to medical problems that can occur during withdrawal, alcohol detoxification should be carefully controlled. [9] One common method involves the use of benzodiazepine medications, such as diazepam . [9] These can be either given while admitted to a health care institution or occasionally while a person remains in the community with close supervision. [9] Mental illness or other addictions may complicate treatment. [22] After detoxification, various forms of individual or group therapy or support groups can help keep a person from returning to drinking. [8] [23] One commonly used form of support is the group Alcoholics Anonymous . [24] The medications acamprosate , disulfiram or naltrexone may also be used to help prevent further drinking. [10] The World Health Organization has estimated that as of 2016, there were 380 million people with alcoholism worldwide (5.1% of the population over 15 years of age). [11] [12] As of 2015 in the United States, about 17 million (7%) of adults and 0.7 million (2.8%) of those age 12 to 17 years of age are affected. [13] Alcoholism is most common among males and young adults. [4] Geographically, it is least common in Africa (1.1% of the population) and has the highest rates in Eastern Europe (11%). [4] Alcoholism directly resulted in 139,000 deaths in 2013, up from 112,000 deaths in 1990. [25] A total of 3.3 million deaths (5.9% of all deaths) are believed to be due to alcohol. [13] Alcoholism reduces a person's life expectancy by approximately ten years. [26] Many terms, some insulting and others informal , have been used to refer to people affected by alcoholism; the expressions include tippler , drunkard , dipsomaniac and souse . [27] In 1979, the World Health Organization discouraged the use of "alcoholism" due to its inexact meaning, preferring "alcohol dependence syndrome". [28] Contents 1 Signs and symptoms 1.1 Long-term misuse 2 Alcohol abuse 2.1 Warning signs 2.1.1 Physical 2.1.1.1 Short-term effects 2.1.1.2 Long-term effects 2.1.2 Psychiatric 2.1.3 Social effects 2.2 Alcohol withdrawal 3 Causes 3.1 Availability 3.2 Gender difference 3.3 Genetic variation 4 Diagnosis 4.1 Definition 4.1.1 Alcoholism 4.1.2 DSM and ICD 4.2 Social barriers 4.3 Screening 4.4 Urine and blood tests 5 Prevention 6 Management 6.1 Detoxification 6.2 Psychological 6.3 Moderate drinking 6.4 Medications 7 Disulfiram-like drug 7.1 Dual addictions and dependences 8 Epidemiology 9 Prognosis 10 History 11 Society and culture 12 See also 13 References 14 External links Signs and symptoms Play media Effects of alcohol on the body The risk of alcohol dependence begins at low levels of drinking and increases directly with both the volume of alcohol consumed and a pattern of drinking larger amounts on an occasion , to the point of intoxication, which is sometimes called "binge drinking".

Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated. Alcohol use disorder is a broad diagnosis that encompasses several commonly used terms describing problems with drinking. It includes alcoholism, also called alcohol addiction, which is a long-lasting (chronic) condition characterized by a powerful, compulsive urge to drink alcohol and the inability to stop drinking after starting. In addition to alcoholism, alcohol use disorder includes alcohol abuse, which involves problem drinking without addiction.

Alcohol dependence Specialty Psychiatry Alcohol dependence is a previous (DSM-IV and ICD-10) psychiatric diagnosis in which an individual is physically or psychologically dependent upon alcohol (also chemically known as ethanol ). In 2013 it was reclassified as alcohol use disorder in DSM-5 , [1] which combined alcohol dependence and alcohol abuse into this diagnosis. Contents 1 Definition 1.1 Diagnosis 1.1.1 DSM: Alcohol dependence 1.1.2 ICD: Alcohol dependence syndrome 1.1.3 Other alcohol-related disorders 1.2 Screening 1.2.1 AUDIT 1.2.2 CAGE 1.2.3 SADQ 2 Treatment 3 Epidemiology 4 History 5 See also 6 Notes 7 External links Definition [ edit ] Addiction and dependence glossary [2] [3] [4] [5] addiction – a biopsychosocial disorder characterized by persistent use of drugs (including alcohol) despite substantial harm and adverse consequences addictive behavior – a behavior that is both rewarding and reinforcing addictive drug – a drug that is both rewarding and reinforcing dependence – an adaptive state associated with a withdrawal syndrome upon cessation of repeated exposure to a stimulus (e.g., drug intake) drug sensitization or reverse tolerance – the escalating effect of a drug resulting from repeated administration at a given dose drug withdrawal – symptoms that occur upon cessation of repeated drug use physical dependence – dependence that involves persistent physical– somatic withdrawal symptoms (e.g., fatigue and delirium tremens ) psychological dependence – dependence that involves emotional–motivational withdrawal symptoms (e.g., dysphoria and anhedonia ) reinforcing stimuli – stimuli that increase the probability of repeating behaviors paired with them rewarding stimuli – stimuli that the brain interprets as intrinsically positive and desirable or as something to approach sensitization – an amplified response to a stimulus resulting from repeated exposure to it substance use disorder – a condition in which the use of substances leads to clinically and functionally significant impairment or distress tolerance – the diminishing effect of a drug resulting from repeated administration at a given dose v t e Diagnosis [ edit ] See also: Alcohol abuse § Diagnosis , and Alcoholism § Diagnosis DSM: Alcohol dependence [ edit ] According to the DSM-IV criteria for alcohol dependence, at least three out of seven of the following criteria must be manifest during a 12-month period: Tolerance Withdrawal symptoms or clinically defined alcohol withdrawal syndrome Use in larger amounts or for longer periods than intended Persistent desire or unsuccessful efforts to cut down on alcohol use Time is spent obtaining alcohol or recovering from effects Social, occupational and recreational pursuits are given up or reduced because of alcohol use Use is continued despite knowledge of alcohol-related harm (physical or psychological) [6] ICD: Alcohol dependence syndrome [ edit ] From the ICD-9 database: [7] A chronic disease in which a person craves drinks that contain alcohol and is unable to control his or her drinking. A person with this disease also needs to drink greater amounts to get the same effect and has withdrawal symptoms after stopping alcohol use. Alcoholism affects physical and mental health, and can cause problems with family, friends, and work.

Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen ( splenomegaly ), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen ( splenectomy ).

Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).

.; Direskeneli, Haner; Sawalha, Amr H. (Jul 2, 2013). "Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis" . ... PMID 23830517 . ^ Renauer PA, Saruhan-Direskeneli G, Coit P, Adler A, Aksu K, Keser G, Alibaz-Oner F, Aydin SZ, Kamali S, Inanc M, Carette S, Cuthbertson D, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, Maksimowicz-McKinnon K, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Duzgun N, Monach PA, Ozer HT, Erken E, Ozturk MA, Yazici A, Cefle A, Onat AM, Kisacik B, Pagnoux C, Kasifoglu T, Seyahi E, Fresko I, Seo P, Sreih AG, Warrington KJ, Ytterberg SR, Cobankara V, Cunninghame-Graham DS, Vyse TJ, Pamuk ON, Tunc SE, Dalkilic E, Bicakcigil M, Yentur SP, Wren JD, Merkel PA, Direskeneli H, Sawalha AH (27 April 2015). "Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study" .

Clinical Features Engel et al. (1970) gave the first report of childbearing by a woman who had had correction of esophageal atresia and tracheoesophageal fistula during infancy. The report was of further significance because her child likewise had esophageal atresia and tracheoesophageal fistula. Schimke et al. (1972) reviewed the literature on esophageal atresia with or without tracheoesophageal fistula and reported a kindred with 2 proved and 3 probable cases. Affected sibs were reported by several authors and parental consanguinity was reported in at least one study (Grieve and McDermott, 1939). Mendelian inheritance is unlikely. Dennis et al. (1973) reported esophageal atresia in a boy, his mother, and his mother's sister.

Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. Epidemiology OA occurs in 1 in 2500 live births. Clinical description Infants with OA are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning. Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association anomalies (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects). In 86% of cases there is a distal tracheooesophageal fistula, in 7% of cases there is no fistulous connection, while in 4% of cases there is a tracheooesophageal fistula without atresia. The remaining cases are made up of patients with OA with proximal, or both proximal and distal, tracheooesophageal fistula.

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-17 (LCA17) is caused by compound heterozygous mutation in the GDF6 gene (601147) on chromosome 8q22. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis (LCA), see LCA1 (204000). Clinical Features Asai-Coakwell et al. (2013) studied a female LCA patient with compound heterozygous mutations in the GDF6 gene who had vision limited to detection of hand motions, with an extinguished electroretinogram (ERG) typical of the LCA phenotype. She did not have other ocular or systemic phenotypes, but the authors noted that she had not undergone radiologic imaging to detect milder GDF6-induced skeletal disease. Evaluation of her clinically unaffected mother revealed a delayed rod b-wave implicit time on ERG; similarly, her apparently unaffected father showed reduced b-wave amplitude.

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-12 (LCA12) is caused by homozygous mutation in the RD3 gene (180040) on chromosome 1q32. For a general phenotypic description and a discussion of genetic heterogeneity of LCA, see LCA1 (204000). Clinical Features Friedman et al. (2006) identified a sister and brother with Leber congenital amaurosis from a consanguineous Indian family. Both probands had had poor vision since birth. Nystagmus and atrophic lesions in the macular area with pigment migration were found on examination. Preising et al. (2012) reported a large consanguineous Kurdish family with LCA, in which 6 of 7 affected individuals were available for study.

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-9 (LCA9) is caused by homozygous or compound heterozygous mutation in the NMNAT1 gene (608700) on chromosome 1p36. For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000). Description Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 (608700) mutations consistently cause severe and rapidly progressive macular degeneration leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012). Clinical Features Koenekoop et al. (2012) reexamined affected individuals from 8 families with Leber congenital amaurosis in whom they had identified mutations in the NMNAT1 gene (608700), which is ubiquitously expressed (see MOLECULAR GENETICS).

A number sign (#) is used with this entry because Leber congenital amaurosis-5 (LCA5) is caused by homozygous mutation in the gene encoding lebercilin (LCA5; 611408) on chromosome 6q14. For a general phenotypic description and a discussion of genetic heterogeneity of LCA, see LCA1 (204000). Clinical Features Dharmaraj et al. (2000) described a multigenerational kindred of Old Order River Brethren, a religious isolate descended from Swiss immigrants to America in the 1750s (Brechbill, 1972), segregating Leber congenital amaurosis. LCA in this kindred was not associated with multisystem abnormalities. Renal function remained normal. Neurologic and hepatic function were within normal limits.

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-1 (LCA1) is caused by homozygous mutation in the gene encoding retinal guanylate cyclase (GUCY2D; 600179) on chromosome 17p13. Heterozygous mutation in the GUCY2D gene causes an allelic disorder, cone-rod dystrophy-6 (CORD6; 601777), and homozygous mutation in the same gene has also been found to cause autosomal recessive CORD (see 610777). Description Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).

Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina . People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia , involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin ( keratoconus ). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis.

A number sign (#) is used with this entry because Leber congenital amaurosis-11 (LCA11) is caused by heterozygous mutation in the IMPDH1 gene (146690) on chromosome 7q32. Heterozygous mutation in the IMPDH1 gene can also cause retinitis pigmentosa-10 (RP10; 180105). Description Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-16 (LCA16) is caused by homozygous mutation in the KCNJ13 gene (603208) on chromosome 2q37. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000). Clinical Features Sergouniotis et al. (2011) studied a consanguineous Middle Eastern family in which 2 brothers had nystagmus at birth and were diagnosed with Leber congenital amaurosis shortly thereafter. Poor night vision and difficulty reading print from an early age was reported for both patients; gradual progression of visual problems affecting central and peripheral vision was also noted. Both patients had bilateral cataract surgery in their third decade. Funduscopy revealed significant pigment in the retinal pigment epithelium (RPE), in a configuration unlike that of typical retinitis pigmentosa (see 268000).

A number sign (#) is used with this entry because Leber congenital amaurosis-7 can be caused by heterozygous or homozygous mutation in the CRX gene (602225) on chromosome 19q13. Description Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.

A number sign (#) is used with this entry because Leber congenital amaurosis-15 and juvenile retinitis pigmentosa are caused by homozygous or compound heterozygous mutation in the TULP1 gene (602280) on chromosome 6p21.3. Description Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.

A number sign (#) is used with this entry because Leber congenital amaurosis-8 (LCA8) is caused by homozygous or compound heterozygous mutation in the CRB1 gene (604210) on chromosome 1q31. Homozygous or compound heterozygous mutation in CRB1 can also cause retinitis pigmentosa-12 (RP12; 600105). Description Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-6 (LCA6) is caused by homozygous or compound heterozygous mutation in the RPGRIP1 gene (605446) on chromosome 14q11. Description Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-2 (LCA2) is caused by homozygous or compound heterozygous mutation in the RPE65 gene (180069) on chromosome 1p31. Mutations in this gene also cause retinitis pigmentosa (RP20; 613794). Description Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. Epidemiology The prevalence of LCA is 1/50,000 - 1/33,000 live births and accounts for 5% of all retinal dystrophies and 20% of blindness in school age children. Clinical description LCA is characterized by severely reduced visual acuity (less or equal 20/400) or blindness within in the first year of life. Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the genetic cause. The Franceschetti's oculo-digital sign, comprising eye poking, pressing, and rubbing is pathognomonic.

A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-10 (LCA10) is caused by homozygous or compound heterozygous mutations in the CEP290 gene (610142) on chromosome 12q21. Description Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by den Hollander et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000). Clinical Features Den Hollander et al. (2006) reported a consanguineous French Canadian family in which 4 sibs had Leber congenital amaurosis. The sibs were blind or severely visually impaired at birth. Two of the 4 experienced seizures but had no other neurologic symptoms.

Sorsby and Williams (1960) observed a family with multiple cases of retinal aplasia in which inheritance was autosomal dominant. 'Retinal aplasia' is the British term for what is called 'congenital amaurosis' on the continent. Much genetic heterogeneity exists as evidenced by the demonstration of both autosomal dominant and autosomal recessive forms. This disorder, which might be called an autosomal dominant form of Leber amaurosis congenita, must be very rare. Heckenlively (1988) reported a 6-generation family with a severe progressive retinal degeneration beginning in infancy.