| H00068 | |
| H number | H00068 |
| Name | Leber hereditary optic atrophy; Leber optic atrophy |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C40.B 8C73.Y ICD-10: H47.2 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 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 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 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 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 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) 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 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 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 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 |