KEGG   DISEASE: Optic atrophy
Entry
H01020                      Disease                                

Name
Optic atrophy
  Subgroup
Leber hereditary optic neuropathy and dystonia [DS:H01365]
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H01020  Optic atrophy
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the visual pathways or centres
   9C40  Disorder of the optic nerve
    H01020  Optic atrophy
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]
Other DBs
ICD-11: 9C40.B0
ICD-10: H47.2
MeSH: D029241
OMIM: 165500 125250 165300 610708 612989 616289 616732 617302
Reference
  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
Reference
  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
Reference
  Authors
Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA
  Title
Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.
  Journal
PLoS One 6:e21347 (2011)
DOI:10.1371/journal.pone.0021347
Reference
  Authors
Desir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M
  Title
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
  Journal
Mol Vis 18:1849-57 (2012)
Reference
  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
Reference
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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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