Molecular genetics and protein function involved in nocturnal vision

Congenital stationary night blindness (CSNB) is a group of genetically and clinically heterogeneous retinal disorders. Ten different genes have been shown to be associated with CSNB. Mutations in genes coding for proteins of the phototransduction cascade can lead to this disease. However, to date, the major cause of CSNB results from mutations in two genes, CACNA1F and NYX, which are thought to play a role downstream of the phototransduction cascade in transmitting the signal from the photoreceptors to the adjacent bipolar cells. This review focuses on the different genetic causes of CSNB. It provides an overview of the genetically and clinically heterogeneous disease and describes recent progress in identifying mutations in these ten genes, as well as the potential underlying molecular mechanisms of their products.