Georgiou M, Robson AG, Fujinami K, et al. - Researchers sought to examine genetics, electrophysiology and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. Full-field electroretinography (ERG) incorporating the international standards have been reviewed and quantified and compared with age and recordings from control individuals. A total of 230 disease-associated alleles have been identified from 117 patients, corresponding to 75 different KCNV2 variants, with 28 being novel. According to this multicenter international clinical cohort study, in KCNV2-retinopathy full-field ERGs are diagnosed and are associated with largely stable peripheral retinal dysfunction. This investigation (Report No.1) highlighted the severity of the clinical phenotype and established a large cohort of patients, stressing the unmet need for novel therapeutic trials.