An Overview of KCNV2 Retinopathy and Potential Future Therapeutics
KCNV2 retinopathy, also known as cone dystrophy with supernormal rod response (CDSRR), is a rare autosomal recessive retinal disorder resulting from mutations in the KCNV2 gene. This condition is characterised by distinct electroretinographic (ERG) findings, progressive photoreceptor degeneration, and significant visual impairment. This review aims to provide a detailed analysis of the pathophysiology, epidemiology, clinical features, diagnostic approaches, and emerging therapeutic options for KCNV2 retinopathy.