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Article

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".

Investigative ophthalmology & visual science - 30 Jan 2013

Vincent Ajoy, Wright Tom, Garcia-Sanchez Yaiza, Kisilak Marsha, Campbell Melanie, Westall Carol, Héon Elise

Abstract excerpt

PURPOSE: To report phenotypic characteristics including macular cone photoreceptor morphology in KCNV2-related "cone dystrophy with supernormal rod electroretinogram" (CDSR). METHODS: Seven patients, aged 9 to 18 years at last visit, with characteristic full-field electroretinographic (ERG) features of CDSR were screened for mutations in the KCNV2 gene. All patients underwent detailed ophthalmological evaluation,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23221069
DOI: 10.1167/iovs.12-10971
PMCID: PMC3880354

Genes

KCNV2
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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