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Article

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.

Ophthalmology - 1 Jun 2017

Talib Mays, van Schooneveld Mary J, van Genderen Maria M, Wijnholds Jan, Florijn Ralph J, Ten Brink Jacoline B, Schalij-Delfos Nicoline E, Dagnelie Gislin, Cremers Frans P M, Wolterbeek Ron, Fiocco Marta, Thiadens Alberta A, Hoyng Carel B, Klaver Caroline C, Bergen Arthur A, Boon Camiel J F

Abstract excerpt

PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. METHODS: A medical record review of 55 patients for age at onset, medical history, initial symptoms, best-corrected visual acuity,...

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Source

Identifiers

PMID: 28341475
DOI: 10.1016/j.ophtha.2017.01.047

Genes

CRB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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