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

doi:10.1016/j.ajo.2020.11.022

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

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

American journal of ophthalmology - 1 May 2021

Georgiou Michalis, Robson Anthony G, Fujinami Kaoru, Leo Shaun M, Vincent Ajoy, Nasser Fadi, Cabral De Guimarães Thales Antônio, Khateb Samer, Pontikos Nikolas, Fujinami-Yokokawa Yu, Liu Xiao, Tsunoda Kazushige, Hayashi Takaaki, Vargas Mauricio E, Thiadens Alberta A H J, de Carvalho Emanuel R, Nguyen Xuan-Thanh-An, Arno Gavin, Mahroo Omar A, Martin-Merida Maria Inmaculada, Jimenez-Rolando Belen, Gordo Gema, Carreño Ester, Ayuso Carmen, Sharon Dror, Kohl Susanne, Huckfeldt Rachel M, Wissinger Bernd, Boon Camiel J F, Banin Eyal, Pennesi Mark E, Khan Arif O, Webster Andrew R, Zrenner Eberhart, Héon Elise, Michaelides Michel

Abstract excerpt

PURPOSE: To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. STUDY DESIGN: This was a multicenter international clinical cohort study. METHODS: Review of clinical notes and molecular genetic testing. Full-field electroretinography (ERG) recordings, incorporating the international standards, were reviewed and quantified and compared...

Topics

Adolescent
Adult
Aged
Alleles
Child
Child, Preschool
Dark Adaptation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Electroretinography

Female

High-Throughput Nucleotide Sequencing

Humans

Infant

Infant, Newborn

Male

Middle Aged

Molecular Biology

Phenotype

Potassium Channels, Voltage-Gated

Source

Open in PubMed Open full text

Identifiers

PMID: 33309813
DOI: 10.1016/j.ajo.2020.11.022
PMCID: PMC8186730

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

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.PMID 33309813Read ↗

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.Semantic proximity Read ↗

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

Natural history and biomarkers of KCNV2-associated retinopathy.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 ↗

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

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

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.Semantic proximity Read ↗

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

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.Semantic proximity Read ↗

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Semantic proximity Read ↗

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