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Article

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.

American journal of ophthalmology - 1 Jun 2008

Ben Salah Safouane, Kamei Satomi, Sénéćhal Audrey, Lopez Séverine, Bazalgette Christian, Bazalgette Cécile, Eliaou Claudie Malrieu, Zanlonghi Xavier, Hamel Christian P

Abstract excerpt

PURPOSE: To describe patients with cone dystrophy and supernormal rod electroretinogram (ERG) and search for mutations in the recently described KCNV2 gene. DESIGN: Clinical and molecular study. METHODS: Patients from three families originating from France, Morocco, and Algeria had standard ophthalmologic examination and color vision analysis, Goldmann perimetry, International Society for Clinical...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Voltage-Gated

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Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 18400204
DOI: 10.1016/j.ajo.2008.02.004

Genes

KCNV2
ERG

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.

Related research

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Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.PMID 18400204Read ↗

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