| H01088 | |
| H number | H01088 |
| Name | Pigmented paravenous chorioretinal atrophy |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | CRB1 [HSA:23418] [KO:K16681] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B7Y MeSH: C566801 OMIM: 172870 |
| Reference | PMID:21829406 AUTHORS Hernandez-Da Mota SE, Chacon-Lara A TITLE Bilateral pigmented paravenous chorioretinal atrophy: a case report. JOURNAL Case Report Ophthalmol 2:228-31 (2011) DOI:10.1159/000330552 PMID:15623792 AUTHORS McKay GJ, Clarke S, Davis JA, Simpson DA, Silvestri G TITLE Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. JOURNAL Invest Ophthalmol Vis Sci 46:322-8 (2005) DOI:10.1167/iovs.04-0734 PMID:11116690 AUTHORS Murray AT, Kirkby GR TITLE Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight. JOURNAL Eye (Lond) 14 Pt 5:711-6 (2000) DOI:10.1038/eye.2000.189 |