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Article

Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.

Investigative ophthalmology & visual science - 1 Dec 2025

Zou Xuan, Fang Sha, Liu Yue, Li Hui, Han Xiaoxu, Sui Ruifang

Abstract excerpt

Purpose: To conduct a comprehensive analysis of the distinct manifestations of two primary phenotypes of Crumbs cell polarity complex component 1 (CRB1)-related retinal dystrophy, pan-retinopathy, and maculopathy. Methods: A cohort of 75 patients with biallelic pathogenic variants in the CRB1 gene was recruited. Clinical evaluations including visual acuity, refractive errors, fundus autofluorescence imaging,...

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Identifiers

PMID: 41358656
DOI: 10.1167/iovs.66.15.27
PMCID: PMC12700173

Genes

CRB1
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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