Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

Abstract

Many mendelian disorders have been recognized in which dysplasia, dysfunction, and/or degeneration of the retina are observed in combination with abnormalities of other organ systems. In the past decade, molecular geneticists have traced the cause of a number of these syndromes to a phylogenetically ancient organelle, the sensory cilium. Cilia-associated proteins are essential for the normal development and function of a wide array of specialized tissues including the retina, inner ear, kidney, and brain. The many manifestations of Bardet-Biedl, Usher, Joubert, and Senior-Loken syndromes result from a loss or imperfect function of a component of the cilium-centrosome complex.^1,2