KEGG   DISEASE: H00068Help
Entry
H00068                      Disease                                

Name
Leber optic atrophy;
Leber hereditary optic atrophy (LHON)
Description
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted inherited genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. In most of the patients with LHON, visual dysfunction is the only manifestation of the disease. The incidence of LHON in Western Europe is 1/30000-1/50000; at least 1 in 14000 males is affected.
Category
Neurodegenerative disease
BRITE hierarchy
Pathway
Oxidative phosphorylation
Gene
ND1; NADH dehydrogenase I, subunit 1 (mutation) [HSA:4535] [KO:K03878]
ND2; NADH dehydrogenase I, subunit 2 (mutation) [HSA:4536] [KO:K03879]
ND4; NADH dehydrogenase I, subunit 4 (mutation) [HSA:4538] [KO:K03881]
ND4L; NADH dehydrogenase I, subunit 4L (mutation) [HSA:4539] [KO:K03882]
ND5; NADH dehydrogenase I, subunit 5 (mutation) [HSA:4540] [KO:K03883]
ND6; NADH dehydrogenase I, subunit 6 (mutation) [HSA:4541] [KO:K03884]
CYTB; cytochrome b (mutation) [HSA:4519] [KO:K00412]
COX1; cytochrome c oxidase subunit I (mutation) [HSA:4512] [KO:K02256]
COX3; cytochrome c oxidase III (mutation) [HSA:4514] [KO:K02262]
ATP6; ATP synthase F0 subunit 6 (mutation) [HSA:4508] [KO:K02126]
Drug
Antioxidants (vitamins A, C and E, selenium and zinc)
Comment
Disease class: mitochondrial disorder
Affected region: optic nerves
Microscopic lesion: degeneration of retinal ganglion cells
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF
  Title
Inherited mitochondrial optic neuropathies.
  Journal
J Med Genet 46:145-58 (2009)
Reference
  Authors
Yen MY, Wang AG, Wei YH
  Title
Leber's hereditary optic neuropathy: a multifactorial disease.
  Journal
Prog Retin Eye Res 25:381-96 (2006)
Reference
  Authors
Finsterer J.
  Title
Central nervous system manifestations of mitochondrial disorders.
  Journal
Acta Neurol Scand 114:217-38 (2006)
Reference
  Authors
Johns DR, Colby KA
  Title
Treatment of Leber's hereditary optic neuropathy: theory to practice.
  Journal
Semin Ophthalmol 17:33-8 (2002)
Reference
  Authors
Newman NJ
  Title
From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers.
  Journal
J Neuroophthalmol 22:257-61 (2002)
Reference
PMID:8755941
  Authors
Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S
  Title
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
  Journal
Am J Hum Genet 59:481-5 (1996)
Reference
PMID:8240102
  Authors
Smith KH, Johns DR, Heher KL, Miller NR
  Title
Heteroplasmy in Leber's hereditary optic neuropathy.
  Journal
Arch Ophthalmol 111:1486-90 (1993)
Reference
PMID:7760326
  Authors
Riordan-Eva P, Harding AE
  Title
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.
  Journal
J Med Genet 32:81-7 (1995)
Reference
PMID:3201231
  Authors
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK
  Title
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
  Journal
Science 242:1427-30 (1988)
Reference
PMID:1634041
  Authors
Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC.
  Title
Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.
  Journal
FASEB J 6:2791-9 (1992)

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