This study investigates the genetic basis of retinal diseases in four consanguineous families from Pakistan, focusing on mutations in the CNGA3, CACNA1F, and RPGRIP1 genes that are implicated in retinal dysfunctions such as achromatopsia, congenital stationary night blindness, and retinal dystrophies. This evidence concerns the gene RPGRIP1 and congenital stationary night blindness.