Associated Papers
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M et al.
American Journal of Ophthalmology, 2021
33309813 (PubMed )
Supplement: mmc1.pdf
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
32441199 (PubMed )
Supplement: IOPG_A_1766087_SM2520.pdf
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
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
Robson AG et al.
Retina (philadelphia, Pa.), 2010
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Thiagalingam S et al.
Ophthalmic Genetics, 2007
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
Wu H et al.
American Journal of Human Genetics, 2006
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