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Article

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.

Investigative ophthalmology & visual science - 7 Nov 2011

Friedburg Christoph, Wissinger Bernd, Schambeck Maria, Bonin Michael, Kohl Susanne, Lorenz Birgit

Abstract excerpt

PURPOSE: To provide an up to 14-year overview of the early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene. METHODS: Two brothers and their sister were followed-up clinically from ages 5 years, 4 years, and 2 months, respectively, including complete ophthalmological examinations. Goldmann visual fields, two-color-threshold (2CT) perimetry, color vision testing, optical coherence...

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Source

Identifiers

PMID: 21911584
DOI: 10.1167/iovs.11-8187

Genes

KCNV2
ERG
RPE

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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