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Article

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.

Genes - 22 May 2022

Malechka Volha V, Cukras Catherine A, Chew Emily Y, Sergeev Yuri V, Blain Delphine, Jeffrey Brett G, Ullah Ehsan, Hufnagel Robert B, Brooks Brian P, Huryn Laryssa A, Zein Wadih M

Abstract excerpt

The retinal dystrophy phenotype associated with CDHR1 retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive CDHR1 and report novel variants in populations not previously identified with CDHR1-related retinopathy. Seven patients had evaluations covering at least a three-year period. The...

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Identifiers

PMID: 35627310
DOI: 10.3390/genes13050925
PMCID: PMC9140808

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