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Article

CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.

Genes - 19 Jan 2026

Takács Ágnes, Varsányi Balázs, Barboni Mirella, Vámos Rita, Lesch Balázs, Dobos Dominik, Clapp Emília, Végh András, Zobor Ditta, Knézy Krisztina, Nagy Zoltán Zsolt, Szabó Viktória

Abstract excerpt

Aim: To report on the clinical and genetic spectrum of retinopathy associated with CDHR1 variants in a Hungarian cohort. Methods: A retrospective cohort study was conducted at a single tertiary care referral center. The study enrolled nine patients harboring biallelic variants in the CDHR1 gene. Detailed clinical history, multimodal imaging, electroretinography, and molecular genetics are presented. Results: We...

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Identifiers

PMID: 41595520
DOI: 10.3390/genes17010102
PMCID: PMC12840604

Genes

CDHR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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