What is (are) Senior Loken Syndrome ?
Senior Loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. It can be caused by mutations in one of at least six genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. These microscopic, finger-like projections stick out on the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). Senior Loken syndrome is inherited in an autosomal recessive pattern.