KEGG DISEASE: Leber hereditary optic atrophy

DISEASE: Leber hereditary optic atrophy

Entry

H00068                      Disease

Name

Leber hereditary optic atrophy;
Leber optic atrophy

Supergrp

Mitochondrial disease [DS:H01427]

Description

Leber 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

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H00068  Leber hereditary optic atrophy
09 Diseases of the visual system
  Disorders of the visual pathways or centres
   9C40  Disorder of the optic nerve
    H00068  Leber hereditary optic atrophy

Pathway

hsa00190

Oxidative phosphorylation

hsa04723

Retrograde endocannabinoid signaling

Gene

ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
CYTB [HSA:4519] [KO:K00412]
COX1 [HSA:4512] [KO:K02256]
COX3 [HSA:4514] [KO:K02262]
ATP6 [HSA:4508] [KO:K02126]

Other DBs

ICD-11:

9C40.B 8C73.Y

MeSH:

D029242

OMIM:

535000

Reference

PMID:19001017

Authors

Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF

Title

Inherited mitochondrial optic neuropathies.

Journal

J Med Genet 46:145-58 (2009)
DOI:10.1136/jmg.2007.054270

Reference

PMID:16829155

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)
DOI:10.1016/j.preteyeres.2006.05.002

Reference

PMID:16942541

Authors

Finsterer J.

Title

Central nervous system manifestations of mitochondrial disorders.

Journal

Acta Neurol Scand 114:217-38 (2006)
DOI:10.1111/j.1600-0404.2006.00671.x

Reference

PMID:15513454

Authors

Johns DR, Colby KA

Title

Treatment of Leber's hereditary optic neuropathy: theory to practice.

Journal

Semin Ophthalmol 17:33-8 (2002)
DOI:10.1076/soph.17.1.33.10288

Reference

PMID:12464728

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)
DOI:10.1097/00041327-200212000-00001

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)
DOI:10.1001/archopht.1993.01090110052022

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)
DOI:10.1136/jmg.32.2.81

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)
DOI:10.1126/science.3201231

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)
DOI:10.1096/fasebj.6.10.1634041

» Japanese version

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