Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC et al.
The British Journal of Ophthalmology, 2024
Natural history and biomarkers of KCNV2-associated retinopathy.
Sakti DH et al.
Clinical & Experimental Ophthalmology, 2024
Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.
Sato T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
[KCNV2-associated cone dystrophy case report: Clinical and electrophysiological features].
Pasquier L et al.
Journal Francais D'ophtalmologie, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
Esteves-Leandro J et al.
European Journal of Ophthalmology, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M et al.
American Journal of Ophthalmology, 2021
Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
Lie H et al.
Ophthalmic Genetics, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Guimaraes TAC et al.
Ophthalmic Genetics, 2020
Cone dystrophy with "supernormal" rod ERG: psychophysical testing shows comparable rod and cone temporal sensitivity losses with no gain in rod function.
Stockman A et al.
Investigative Ophthalmology & Visual Science, 2014
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
Vincent A et al.
Investigative Ophthalmology & Visual Science, 2013
Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.
Fujinami K et al.
Molecular Vision, 2013
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.
Smith KE et al.
The Journal of Biological Chemistry, 2012
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
Sergouniotis PI et al.
The British Journal of Ophthalmology, 2012
Rod and cone function in patients with KCNV2 retinopathy.
Zobor D et al.
Plos One, 2012
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Wissinger B et al.
Human Mutation, 2011
Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
Friedburg C et al.
Investigative Ophthalmology & Visual Science, 2011
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
Ben Salah S et al.
American Journal of Ophthalmology, 2008
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
Wissinger B et al.
Investigative Ophthalmology & Visual Science, 2008
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Thiagalingam S et al.
Ophthalmic Genetics, 2007