| H01256 | |
| H number | H01256 |
| Name | Foveal hypoplasia |
| Description | Foveal hypoplasia (FVH) is characterized by absence or abnormal foveomacular reflex, unclear definition of the foveomacular area, and presence of capillaries running abnormally close to the macula. It can be isolated or associated with presenile cataract. The mutations in the PAX6 gene have been described in foveal hypoplasia. Recently, it has been reported that recessive mutations in SLC38A8 cause foveal hypoplasia. |
| Category | Nervous system disease |
| Network | - |
| Gene | (FVH1) PAX6 [HSA:5080] [KO:K08031] (FVH2) SLC38A8 [HSA:146167] [KO:K14994] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA13.8 ICD-10: Q14 MeSH: C565005 OMIM: 136520 609218 |
| Reference | PMID:8640214 AUTHORS Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M TITLE PAX6 missense mutation in isolated foveal hypoplasia. JOURNAL Nat Genet 13:141-2 (1996) DOI:10.1038/ng0696-141 PMID:9931324 AUTHORS Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V TITLE Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. JOURNAL Hum Mol Genet 8:165-72 (1999) DOI:10.1093/hmg/8.2.165 PMID:19590516 AUTHORS Vincent A, Kemmanu V, Shetty R, Anandula V, Madhavarao B, Shetty B TITLE Variable expressivity of ocular associations of foveal hypoplasia in a family. JOURNAL Eye (Lond) 23:1735-9 (2009) DOI:10.1038/eye.2009.180 PMID:24290379 AUTHORS Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C TITLE Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. JOURNAL Am J Hum Genet 93:1143-50 (2013) DOI:10.1016/j.ajhg.2013.11.002 |