Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome Sequencing
Share to Family

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

Share to Genetic Testing

Share to Heterozygote

Share to Optical Imaging

Share to Potassium Channels, Voltage-Gated

Share to Retinal Rod Photoreceptor Cells

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

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

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.PMID 34535971Read ↗

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.Semantic proximity Read ↗

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

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.Semantic proximity Read ↗

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.Semantic proximity Read ↗

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.Semantic proximity Read ↗

KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.Semantic proximity Read ↗

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.Semantic proximity Read ↗

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.Semantic proximity Read ↗

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

Long-term follow-up of a Chinese patient with KCNV2-retinopathy.Semantic proximity Read ↗

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.Semantic proximity Read ↗

Molecular Mechanisms Governing Sight Loss in Inherited Cone DisordersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.