H00732 | |
H number | H00732 |
Name | Sorsby fundus dystrophy |
Description | Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of peripheral vision. The onset is usually in the third to fifth decade of life. The tissue inhibitor of metalloproteinase 3 (TIMP3) is associated with the disease. |
Category | Nervous system disease |
Network | - |
Gene | TIMP3 [HSA:7078] [KO:K16866] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 9B61 ICD-10: H35.5 MeSH: C564992 OMIM: 136900 |
Reference | PMID:2695876 AUTHORS Hamilton WK, Ewing CC, Ives EJ, Carruthers JD TITLE Sorsby's fundus dystrophy. JOURNAL Ophthalmology 96:1755-62 (1989) DOI:10.1016/S0161-6420(89)32647-9 PMID:11486938 AUTHORS Weisinger HS, Pesudovs K TITLE Sorsby's fundus dystrophy. JOURNAL Optometry 72:435-40 (2001) PMID:1559761 AUTHORS Steinmetz RL, Polkinghorne PC, Fitzke FW, Kemp CM, Bird AC TITLE Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. JOURNAL Invest Ophthalmol Vis Sci 33:1633-6 (1992) PMID:11556484 AUTHORS Musarella MA TITLE Molecular genetics of macular degeneration. JOURNAL Doc Ophthalmol 102:165-77 (2001) DOI:10.1023/a:1017510515893 PMID:16259644 AUTHORS Li Z, Clarke MP, Barker MD, McKie N TITLE TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. JOURNAL Expert Rev Mol Med 7:1-15 (2005) DOI:10.1017/S1462399405010045 |