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

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Ophthalmology - 1 Nov 2013

Zelinger Lina, Wissinger Bernd, Eli Dalia, Kohl Susanne, Sharon Dror, Banin Eyal

Abstract excerpt

OBJECTIVE: To study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population. DESIGN: Case series. PARTICIPANTS: Patients with cone-dominated diseases and unaffected relatives were included. The protocol was approved by the institutional review board and informed consent was obtained from all participants. METHODS: Genomic DNA was...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Potassium Channels, Voltage-Gated

Share to Retinitis Pigmentosa

Share to Sequence Analysis, DNA

Share to Visual Acuity

Share to Young Adult

Source

Identifiers

PMID: 23725738
DOI: 10.1016/j.ophtha.2013.03.031

Genes

KCNV2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.PMID 23725738Read ↗

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

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

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

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

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

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.Semantic proximity Read ↗

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Semantic proximity Read ↗

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.Semantic proximity Read ↗

Natural history and biomarkers of KCNV2-associated retinopathy.Semantic proximity Read ↗

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

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.Semantic proximity Read ↗

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