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Article

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.

Ophthalmology. Retina - 1 Jan 2025

Hahn Leo C, van der Veen Isa, Georgiou Michalis, van Schooneveld Mary J, Ten Brink Jacoline B, Florijn Ralph J, Mahroo Omar A, de Carvalho Emanuel R, Webster Andrew R, Bergen Arthur A, Michaelides Michel, Boon Camiel J F

Abstract excerpt

PURPOSE: To describe phenotypic, genotypic, and histopathological features of inherited retinal dystrophies associated with the CRX gene (CRX-RDs). DESIGN: Retrospective multicenter cohort study including histopathology. SUBJECTS: Thirty-nine patients from 31 families with pathogenic variants in the CRX gene. METHODS: Clinical data of 152 visits were collected from medical records. The median follow-up time was...

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Source

Identifiers

PMID: 39128788
DOI: 10.1016/j.oret.2024.08.003

Genes

CRX

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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