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Article

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

Investigative ophthalmology & visual science - 12 Jul 2013

van Huet Ramon A C, Estrada-Cuzcano Alejandro, Banin Eyal, Rotenstreich Ygal, Hipp Stephanie, Kohl Susanne, Hoyng Carel B, den Hollander Anneke I, Collin Rob W J, Klevering B Jeroen

Abstract excerpt

PURPOSE: To provide the clinical features in patients with retinal disease caused by C8orf37 gene mutations. METHODS: Eight patients--four diagnosed with retinitis pigmentosa (RP) and four with cone-rod dystrophy (CRD), carrying causal C8orf37 mutations--were clinically evaluated, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG),...

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Identifiers

PMID: 23788369
DOI: 10.1167/iovs.12-11439

Genes

ERG
RPE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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