Molecular genetics and protein function involved in nocturnal vision

Abstract

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.

Keywords::

• bipolar cell
• congenital stationary night blindness
• genetic defect
• phototransduction cascade
• rod photoreceptor
• signaling
• variability of the phenotype

Acknowledgements

I would like to thank the president of Retina Suisse, Christina Fasser, for providing the photos in Figure 1 (www.retina.ch), Wolfgang Berger, Barbara Kloeckener-Gruissem and John Neidhardt for critical reading of the manuscript, Gabor Mátyás for verification of the mutation lists, and the Forschungskredit of the University of Zurich (Switzerland) for the financial support.