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Article

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.

Ophthalmic genetics - 1 Jan 2000

Bessette A P, DeBenedictis M J, Traboulsi E I

Abstract excerpt

BACKGROUND: The clinical phenotype of patients presenting with autosomal recessive CDHR1-related retinopathy has not been well described. MATERIALS AND METHODS: This is a retrospective case series of patients presenting to a single institution. Clinical data, including age, visual acuity, dilated fundus exam, fundus photos, fundus autofluorescence (FAF), optical coherence tomography, full-field electroretinograms...

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Source

Identifiers

PMID: 28885867
DOI: 10.1080/13816810.2017.1363244

Genes

CDHR1

Variants

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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