Retinal Dystrophies

Excerpt

Retinal dystrophies (RD) are a group of degenerative disorders of the retina with clinical and genetic heterogeneity. Common presentations include color blindness or night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. Multiple causative gene defects have been identified. To date, over 270 genes are known to be associated with different phenotypes of retinal dystrophies. Besides, mutations within the same gene have been associated with different phenotypes, even within different individuals of the same family—these genes code for proteins involved in photoreceptors and other retinal cellular units and phototransduction.