AIPL1 protein and its indispensable role in cone photoreceptor function and survival

Mutations in Aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to Leber congenital amaurosis (LCA), a severe blinding disease that occurs in early childhood. The severity of disease is due to requirement for AIPL1 in both rod and cone photoreceptor cell survival and function. Aipl1 is expressed very early during retinal development in both rods and cones. In adult primates, robust expression of Aipl1 is found in rods but not in cones. Mouse models revealed the importance of AIPL1 in stability and function of heteromeric phosphodiesterase 6 (PDE6), an enzyme needed for visual response. However, the need for AIPL1 in cone cell survival and function is not clearly understood. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.