| H01180 | |
| H番号 | H01180 |
| 名称 | Sveinsson 網脈絡膜萎縮; らせん状乳頭周囲脈絡網膜変性 |
| 概要 | Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically by bilateral, well defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress throughout life, sometimes leading to central visual loss. Clinical findings suggest that the expansion of the degenerative lesions is caused by dysplastic abnormalities of the peripapillary retinal pigment epithelium (RPE) and the mechanical tearing of the RPE layer owing to the growth of the globe. Patients with SCRA have a mutation in the TEAD1 gene. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | TEAD1 [HSA:7003] [KO:K09448] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B78.4 ICD-10: H35.4 MeSH: C566236 OMIM: 108985 |
| 文献 | PMID:17339054 著者 Jonasson F, Hardarson S, Olafsson BM, Klintworth GK タイトル Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report. 雑誌 Ophthalmology 114:1541-6 (2007) DOI:10.1016/j.ophtha.2006.11.016 PMID:17689488 著者 Kitagawa M タイトル A Sveinsson's chorioretinal atrophy-associated missense mutation in mouse Tead1 affects its interaction with the co-factors YAP and TAZ. 雑誌 Biochem Biophys Res Commun 361:1022-6 (2007) DOI:10.1016/j.bbrc.2007.07.129 PMID:17683515 著者 Jonasson F, Sander B, Eysteinsson T, Jorgensen T, Klintworth GK タイトル Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction. 雑誌 Acta Ophthalmol Scand 85:862-7 (2007) DOI:10.1111/j.1600-0420.2007.01002.x |