Leber Hereditary Optic Neuropathy

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ND6, ND1, ND4, ND5, ND4L, ATP6, CYTB, COX3, ND2, RPE65, NDUFS2, COX1, IL1B, IL1A, LRAT, CPLX1, OPA1, TBC1D24, PARL, OPA3, CEP290, NDUFA1, CRYZ, FXN, MFN2, PLXNA2, NPTX2, SOD2, RP2, SPG7

ND6, ND1, ND4, ND5, ND4L, ATP6, CYTB, COX3, ND2, RPE65, NDUFS2, COX1, IL1B, IL1A, LRAT, CPLX1, OPA1, TBC1D24, PARL, OPA3, CEP290, NDUFA1, CRYZ, FXN, MFN2, PLXNA2, NPTX2, SOD2, RP2, SPG7, RPGR, TAP2, SCN1A, TFPI, TFAM, ABCA4, TK2, TWNK, GGT2, POTEF, GGTLC3, GGTLC5P, SLC26A5, GLIS3, GMCL2, GMCL1, RPGRIP1, ADI1, TP53, NDUFB11, YARS2, GCA, AIPL1, KIF1B, IMMT, OPTN, COX5A, PHLDA2, POLG, RNR2, SERPINA1, PGD, ERG, EPHX1, ENO2, ENDOG, TIMM8A, ACE, CPOX, COX8A, CAT, CASP3, BNIP3L, BNIP3, AR, AQP4, AMD1P2, AMD1, AKR1B1, ESR2, GGT1, GCLC, MAS1, TRNK, TRNF, ACTB, RNR1, MTHFR, COX2, TRNC, MAPT, GRIA1, TACSTD2, KRT10, HLA-B, HLA-A, GSR, GRM2, GRIA2, GGTLC4P

Drugs

Adeno-associated viral vector containing the human NADH dehydrogenase 4 gene (rAAV2/2-ND4), Alpha-tocotrienol quinone ( VINCERINONE ), idebenone ( SAN IDEBENONE, SOVRIMA, RAXONE )

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Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss. Vision loss is typically the only symptom of LHON. Some families with additional signs and symptoms have been reported and are said to have "LHON plus", a condition which includes vision loss, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis. LHON is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family. Treatment is supportive and may include visual aids. There is ongoing research for more effective treatment.