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Article

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping

6 Aug 2019

Abstract excerpt

Purpose: To report the clinical and molecular findings in patients with retinal dystrophy associated with the c.783G>A variant in CDHR1. Methods: The retinal phenotype of 10 patients with CDHR1-related retinopathy was characterized by multimodal imaging including color fundus photography, optical coherence tomography (OCT), and blue- and near-infrared fundus autofluorescence imaging. Functional testing included...

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PMID: 31387115
DOI: 10.1167/iovs.18-26415

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