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Article

Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.

Investigative ophthalmology & visual science - 1 Jan 2005

McKay Gareth J, Clarke Stephen, Davis Jason A, Simpson David A C, Silvestri Giuliana

Abstract excerpt

PURPOSE: Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. The purpose of this study was to describe the phenotype of a family with PPCRA, determine the mode of inheritance, and identify the cau...

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Share to Atrophy
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15623792
DOI: 10.1167/iovs.04-0734

Genes

CRB1
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15623792-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.PMID 15623792Read ↗

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The Enigma of CRB1 and CRB1 Retinopathies.Semantic proximity Read ↗

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Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.Semantic proximity Read ↗

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