Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".

doi:10.1167/iovs.12-10971

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

Topics Community

Back to search

Article

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".

Investigative ophthalmology & visual science - 30 Jan 2013

Vincent Ajoy, Wright Tom, Garcia-Sanchez Yaiza, Kisilak Marsha, Campbell Melanie, Westall Carol, Héon Elise

Abstract excerpt

PURPOSE: To report phenotypic characteristics including macular cone photoreceptor morphology in KCNV2-related "cone dystrophy with supernormal rod electroretinogram" (CDSR). METHODS: Seven patients, aged 9 to 18 years at last visit, with characteristic full-field electroretinographic (ERG) features of CDSR were screened for mutations in the KCNV2 gene. All patients underwent detailed ophthalmological evaluation,...

Topics

Adolescent
Child
Codon, Terminator
Color Vision
Contrast Sensitivity
Disease Progression
Electroretinography
Female
Frameshift Mutation
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipofuscin

Male

Mosaicism

Phenotype

Photic Stimulation

Potassium Channels, Voltage-Gated

Retinal Cone Photoreceptor Cells

Retinal Rod Photoreceptor Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 23221069
DOI: 10.1167/iovs.12-10971
PMCID: PMC3880354

Genes

KCNV2
ERG

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".PMID 23221069Read ↗

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

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.Semantic proximity Read ↗

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

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

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

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.Semantic proximity Read ↗

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".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 ↗

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

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

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