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Article

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Investigative ophthalmology & visual science - 1 Feb 2008

Wissinger Bernd, Dangel Susann, Jägle Herbert, Hansen Lars, Baumann Britta, Rudolph Günther, Wolf Christiane, Bonin Michael, Koeppen Katja, Ladewig Thomas, Kohl Susanne, Zrenner Eberhart, Rosenberg Thomas

Abstract excerpt

PURPOSE: Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduced visual acuity, color vision defects, and specific alterations of ERG responses that feature elevated scotopic b-wave amplitudes at high luminance intensities. Mutations in PDE6H and in KCNV2 have been described in CDSRR. A combined clinical and genetic study was conducted in a cohort of patients with...

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Share to Color Vision Defects
Share to Cyclic Nucleotide Phosphodiesterases, Type 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Potassium Channels, Voltage-Gated

Share to Retinal Cone Photoreceptor Cells

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Source

Identifiers

PMID: 18235024
DOI: 10.1167/iovs.07-0471

Genes

KCNV2
ERG

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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