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Article

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.

Molecular vision - 1 Jan 2013

Fujinami Kaoru, Tsunoda Kazushige, Nakamura Natsuko, Kato Yu, Noda Toru, Shinoda Kei, Tomita Kaoru, Hatase Tetsuhisa, Usui Tomoaki, Akahori Masakazu, Itabashi Takeshi, Iwata Takeshi, Ozawa Yoko, Tsubota Kazuo, Miyake Yozo

Abstract excerpt

PURPOSE: To describe the molecular characteristics of four Japanese patients with cone dystrophy with supernormal rod responses (CDSRR). METHODS: Four individuals with a clinical and electrophysiological diagnosis of CDSRR were ascertained. The pathognomonic findings of the full-field electroretinograms (ERGs) included a decrease in the rod responses, a square-shaped a-wave, an excessive increase in the b-wave in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23885164
PMCID: PMC3718491

Genes

KCNV2

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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