Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.

doi:10.1002/mgg3.1795

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Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.

Molecular genetics & genomic medicine - 1 Oct 2021

Liu Man, Zhu Yingchuan, Huang Lian, Jiang Wenhao, Wu Na, Song Yue, Lu Yilu, Ma Yongxin

Abstract excerpt

BACKGROUND: Cone dystrophy with supernormal rod response (CDSRR) is an autosomal recessive retinal disorder characterized by myopia, dyschromatopsia, nyctalopia, photophobia, and nystagmus. CDSRR is caused by mutations in KCNV2, the gene encoding for an electrically silent Kv subunit (Kvs) named Kv8.2. METHODS: A Chinese CDSRR family was recruited. Complete ophthalmology clinical examinations were performed to...

Topics

Adult
China
Cone Dystrophy
DNA Mutational Analysis
Family
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Optical Imaging

Pedigree

Phenotype

Potassium Channels, Voltage-Gated

Retinal Rod Photoreceptor Cells

Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 34535971
DOI: 10.1002/mgg3.1795
PMCID: PMC8580074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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