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Article

Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function.

Ophthalmic genetics - 1 Apr 2024

Farag Soma, Yusuf Imran H, Kaukonen Maria, Taylor Laura J, Charbel Issa Peter, MacLaren Robert E

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) associated with biallelic variants in CDHR1 has rarely been reported, and detailed phenotyping data are not available. RP implies relative preservation of foveal cones, when compared to cone-rod dystrophy associated with biallelic null variants in CDHR1. We hypothesize that RP may occur in association with one or more hypomorphic CDHR1 alleles. MATERIALS AND METHODS:...

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Identifiers

PMID: 37728066
DOI: 10.1080/13816810.2023.2255265

Genes

CDHR1

Variants

Provenance

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