Associated Papers
Retinal Sensitivity Loss and Beyond in KCNV2-Related Retinopathy: The First Genetically Confirmed Case in Türkiye.
Fatihoğlu ÖU et al.
Turkish Journal of Ophthalmology, 2025
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC et al.
The British Journal of Ophthalmology, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1
Natural history and biomarkers of KCNV2-associated retinopathy.
Sakti DH et al.
Clinical & Experimental 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
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
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
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
[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].
Sharon D et al.
Harefuah, 2019
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.
Hanany M et al.
European Journal of Human Genetics : Ejhg, 2018
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
Zelinger L et al.
Ophthalmology, 2013
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
Ritter M et al.
The British Journal of Ophthalmology, 2013
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA et al.
Ophthalmology, 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
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