| H01020 | |
| H number | H01020 |
| Name | Optic atrophy |
| Description | Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion cells whose axons form the optic nerve. Symptoms include a variable association of decreased visual acuity, visual field defects, and color vision abnormalities. All nonsyndromic OPAs characterized to date result from defects in genes encoding mitochondria-related proteins. The most frequent forms of nonsyndromic OPA are autosomal dominant OPA1-linked OPA (OPA1) and mitochondrial DNA-linked, maternally inherited Leber hereditary optic neuropathy (LHON). By contrast, autosomal recessive forms of optic atrophies (arOAs) are less frequent, and most cases are syndromic (e.g., OPA3 and OPA7). Isolated or nonsyndromic arOAs are believed to be extremely rare. |
| Category | Nervous system disease |
| Network | - |
| Gene | (OPA1) OPA1 [HSA:4976] [KO:K17079] (OPA3) OPA3 [HSA:80207] [KO:K23166] (OPA5) DNM1L [HSA:10059] [KO:K17065] (OPA7) TMEM126A [HSA:84233] [KO:K18157] (OPA9) ACO2 [HSA:50] [KO:K01681] (OPA10) RTN4IP1 [HSA:84816] [KO:K23164] (OPA11) YME1L1 [HSA:10730] [KO:K08955] (OPA12) AFG3L2 [HSA:10939] [KO:K08956] (OPA13) SSBP1 [HSA:6742] [KO:K03111] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C40.B0 ICD-10: H47.2 MeSH: D029241 OMIM: 165500 125250 165300 610708 612989 616289 616732 617302 618977 165510 |
| Reference | PMID:21112411 AUTHORS Yu-Wai-Man P, Griffiths PG, Chinnery PF TITLE Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. JOURNAL Prog Retin Eye Res 30:81-114 (2011) DOI:10.1016/j.preteyeres.2010.11.002 PMID:19268652 AUTHORS Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA TITLE Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. JOURNAL Biochim Biophys Acta 1787:518-28 (2009) DOI:10.1016/j.bbabio.2009.02.024 PMID:11017079 (OPA1) AUTHORS Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP TITLE Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. JOURNAL Nat Genet 26:207-10 (2000) DOI:10.1038/79936 PMID:18222990 (OPA1 plus syndrome) AUTHORS Zeviani M TITLE OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. JOURNAL Brain 131:314-7 (2008) DOI:10.1093/brain/awm339 PMID:15342707 (OPA3) AUTHORS Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthiery Y, Lenaers G, Bonneau D TITLE OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. JOURNAL J Med Genet 41:e110 (2004) DOI:10.1136/jmg.2003.016576 PMID:28969390 (OPA5) AUTHORS Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G TITLE Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. JOURNAL Brain 140:2586-2596 (2017) DOI:10.1093/brain/awx219 PMID:19327736 (OPA7) AUTHORS Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM TITLE TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. JOURNAL Am J Hum Genet 84:493-8 (2009) DOI:10.1016/j.ajhg.2009.03.003 PMID:25351951 (OPA9) AUTHORS Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C TITLE Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. JOURNAL J Med Genet 51:834-8 (2014) DOI:10.1136/jmedgenet-2014-102532 PMID:26593267 (OPA10) AUTHORS Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Megy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G TITLE Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. JOURNAL Am J Hum Genet 97:754-60 (2015) DOI:10.1016/j.ajhg.2015.09.012 PMID:27495975 (OPA11) AUTHORS Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graf R, van den Heuvel L, Ropers HH, Wienker TF, Hubner C, Langer T, Kaindl AM TITLE Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. JOURNAL Elife 5:e16078 (2016) DOI:10.7554/eLife.16078 PMID:32219868 (OPA12) AUTHORS Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schols L, Schule R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F TITLE ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. JOURNAL Ann Neurol 88:18-32 (2020) DOI:10.1002/ana.25723 PMID:31550240 (OPA13) AUTHORS Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V TITLE SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. JOURNAL J Clin Invest 130:108-125 (2020) DOI:10.1172/JCI128514 |