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Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. A rare variant in the gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this variant was observed. A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a seve