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Article

A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.

European journal of ophthalmology - 1 Jan 2022

Oh Jin Kyun, Nuzbrokh Yan, Lee Winston, Lima de Carvalho Jose Ronaldo, Wang Nan Kai, Sparrow Janet R, Allikmets Rando, Tsang Stephen H

Abstract excerpt

INTRODUCTION: Mutations in the cone-rod homeobox (CRX) gene, a known cause of inherited retinal dystrophy, are characterized by extensive phenotypic heterogeneity. We describe a novel presentation of rod-cone dystrophy (RCD) phenocopying pigmented paravenous retinochoroidal atrophy associated with a mutation in CRX. CASE DESCRIPTION: A 53-year-old man and his 48-year-old brother presented with a history of...

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Identifiers

PMID: 32927963
DOI: 10.1177/1120672120957599
PMCID: PMC9119417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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