| H01256 | |
| H番号 | H01256 |
| 名称 | 中心窩低形成 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (FVH1) PAX6 [HSA:5080] [KO:K08031] (FVH2) SLC38A8 [HSA:146167] [KO:K14994] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA13.8 ICD-10: Q14 MeSH: C565005 OMIM: 136520 609218 |
| 文献 | PMID:8640214 著者 Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M タイトル PAX6 missense mutation in isolated foveal hypoplasia. 雑誌 Nat Genet 13:141-2 (1996) DOI:10.1038/ng0696-141 PMID:9931324 著者 Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V タイトル Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 雑誌 Hum Mol Genet 8:165-72 (1999) DOI:10.1093/hmg/8.2.165 PMID:19590516 著者 Vincent A, Kemmanu V, Shetty R, Anandula V, Madhavarao B, Shetty B タイトル Variable expressivity of ocular associations of foveal hypoplasia in a family. 雑誌 Eye (Lond) 23:1735-9 (2009) DOI:10.1038/eye.2009.180 PMID:24290379 著者 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 タイトル Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. 雑誌 Am J Hum Genet 93:1143-50 (2013) DOI:10.1016/j.ajhg.2013.11.002 |