To conclude, compound heterozygous variations (c.731G>C and c.280dup) were revealed in the KCNV2 gene of a male with CDSRR, which presented nystagmus, photophobia, dyschromatopsia, and night blindness at an early age, but had uncharacteristic FFERG changes compared to generalized CDSRR patients. This evidence concerns the gene KCNV2 and Nystagmus.