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Article

Clinical characteristics of early retinal disease due to CDHR1 mutation.

Molecular vision - 1 Jan 2013

Ba-Abbad Rola, Sergouniotis Panagiotis I, Plagnol Vincent, Robson Anthony G, Michaelides Michel, Holder Graham E, Webster Andrew R

Abstract excerpt

PURPOSE: To describe the early clinical and electrophysiological features of cone-rod dystrophy due to a mutation of cadherin-related family member 1 (CDHR1). METHODS: Three affected siblings from a consanguineous family were ascertained. The clinical data included retinal examination, Goldmann visual fields, fundus autofluorescence imaging, optical coherence tomography (OCT), and pattern and full-field...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24265541
PMCID: PMC3834600

Genes

CDHR1

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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