Cone Dystrophy with Supernormal Rod Response: Novel KCNV2 Mutations in an Underdiagnosed Phenotype – Corrected Proof

Objective: To study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population.Design: Case series.Participants: Patients with cone-dominated diseases and unaffected relatives were included. The protocol was approved by the institutional review board and informed consent was obtained from all participants.Methods: Genomic DNA was extracted and Sanger sequencing was performed on polymerase chain reaction products. Whole genome single nucleotide polymorphism analysis was performed using Affymetrix (Santa Clara, CA) platforms.Main Outcome Measures: Single nucleotide polymorphism microarray and homozygosity analysis, DNA sequence analysis, visual function testing, and electroretinography.Results: Aiming to study the genetics (Read more...)

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