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Article

Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2024

Sato Tomoko, Kuniyoshi Kazuki, Hayashi Takaaki, Nishiwaki Hirokazu, Mizobuchi Kei, Kusaka Shunji

Abstract excerpt

BACKGROUND: KCNV2-associated retinopathy causes a phenotype reported as "cone dystrophy with nyctalopia and supernormal rod responses (CDSRR; OMIM# 610356)," featuring pathognomonic findings on electroretinography (ERG). Here, we report the clinical courses of two siblings with CDSRR. CASE REPORTS: Patient 1: A 3-year-old boy with intermittent exophoria was referred to our hospital. The patient's decimal...

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Share to Electroretinography
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Potassium Channels, Voltage-Gated

Share to Retina

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Share to Tomography, Optical Coherence

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Source

Identifiers

PMID: 38630375
DOI: 10.1007/s10633-024-09971-0

Genes

ERG
KCNV2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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