| H00068 | |
| H番号 | H00068 |
| 名称 | レーベル遺伝性視神経症; レーバー遺伝性視神経萎縮症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9C40.B 8C73.Y ICD-10: H47.2 MeSH: D029242 OMIM: 535000 |
| 文献 | PMID:19001017 著者 Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF タイトル Inherited mitochondrial optic neuropathies. 雑誌 J Med Genet 46:145-58 (2009) DOI:10.1136/jmg.2007.054270 PMID:16829155 著者 Yen MY, Wang AG, Wei YH タイトル Leber's hereditary optic neuropathy: a multifactorial disease. 雑誌 Prog Retin Eye Res 25:381-96 (2006) DOI:10.1016/j.preteyeres.2006.05.002 PMID:16942541 著者 Finsterer J. タイトル Central nervous system manifestations of mitochondrial disorders. 雑誌 Acta Neurol Scand 114:217-38 (2006) DOI:10.1111/j.1600-0404.2006.00671.x PMID:15513454 著者 Johns DR, Colby KA タイトル Treatment of Leber's hereditary optic neuropathy: theory to practice. 雑誌 Semin Ophthalmol 17:33-8 (2002) DOI:10.1076/soph.17.1.33.10288 PMID:12464728 著者 Newman NJ タイトル From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. 雑誌 J Neuroophthalmol 22:257-61 (2002) DOI:10.1097/00041327-200212000-00001 PMID:8755941 著者 Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S タイトル Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. 雑誌 Am J Hum Genet 59:481-5 (1996) PMID:8240102 著者 Smith KH, Johns DR, Heher KL, Miller NR タイトル Heteroplasmy in Leber's hereditary optic neuropathy. 雑誌 Arch Ophthalmol 111:1486-90 (1993) DOI:10.1001/archopht.1993.01090110052022 PMID:7760326 著者 Riordan-Eva P, Harding AE タイトル Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. 雑誌 J Med Genet 32:81-7 (1995) DOI:10.1136/jmg.32.2.81 PMID:3201231 著者 Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK タイトル Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. 雑誌 Science 242:1427-30 (1988) DOI:10.1126/science.3201231 PMID:1634041 著者 Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC. タイトル Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. 雑誌 FASEB J 6:2791-9 (1992) DOI:10.1096/fasebj.6.10.1634041 |