| H01088 | |
| H番号 | H01088 |
| 名称 | 色素性傍静脈網脈絡膜萎縮 |
| 概要 | Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the distribution of the retinal veins. PPCRA is bilaterally symmetric, although unilateral cases have been reported. Most cases are sporadic and may represent an acquired response pattern to an infectious or inflammatory disease. There may be an autosomal dominant modes of inheritance caused by a mutation in the CRB1 gene or an X-linked inheritance mode. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | CRB1 [HSA:23418] [KO:K16681] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B7Y MeSH: C566801 OMIM: 172870 |
| 文献 | PMID:21829406 著者 Hernandez-Da Mota SE, Chacon-Lara A タイトル Bilateral pigmented paravenous chorioretinal atrophy: a case report. 雑誌 Case Report Ophthalmol 2:228-31 (2011) DOI:10.1159/000330552 PMID:15623792 著者 McKay GJ, Clarke S, Davis JA, Simpson DA, Silvestri G タイトル Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. 雑誌 Invest Ophthalmol Vis Sci 46:322-8 (2005) DOI:10.1167/iovs.04-0734 PMID:11116690 著者 Murray AT, Kirkby GR タイトル Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight. 雑誌 Eye (Lond) 14 Pt 5:711-6 (2000) DOI:10.1038/eye.2000.189 |