H00819 | |
H number | H00819 |
Name | Stargardt disease; Fundus flavimaculatus |
Description | Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4, ELOVL4, PROM1, and CNGB3. |
Category | Nervous system disease |
Network | - |
Gene | (STGD1) ABCA4 [HSA:24] [KO:K05644] (STGD1) CNGB3 [HSA:54714] [KO:K04953] (STGD3) ELOVL4 [HSA:6785] [KO:K10249] (STGD4) PROM1 [HSA:8842] [KO:K06532] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 9B70 ICD-10: H35.5 MeSH: C535804 C535805 C535521 OMIM: 248200 600110 603786 |
Reference | PMID:12789571 AUTHORS Koenekoop RK TITLE The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review. JOURNAL Ophthalmic Genet 24:75-80 (2003) DOI:10.1076/opge.24.2.75.13996 PMID:19352439 AUTHORS Xi Q, Li L, Traboulsi EI, Wang QK TITLE Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease. JOURNAL Mol Vis 15:638-45 (2009) PMID:20393116 AUTHORS Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL TITLE The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. JOURNAL Invest Ophthalmol Vis Sci 51:4771-80 (2010) DOI:10.1167/iovs.09-4561 |