Mouse Models of RP

Abstract

Retinitis pigmentosa (RP) is the name given to a group of eye diseases often characterized by night blindness and the gradual loss of peripheral vision RP causes the degeneration of photoreceptor cells in the retina. As these cells degenerate and die, patients experience progressive vision loss to eventual blindness. The most common feature of all forms of RP is a gradual degeneration of photoreceptor cells: rod cells and cone cells. The rods and cones are the cells responsible for converting light into electrical impulses that are transmitted to the brain where “seeing” actually occurs. RP is an inherited, genetically heterogeneous condition, i.e., RP can result from mutations in many different genes. It is caused by mutations in genes that are active in retinal cells. RP is a common form of retinal degeneration (RD). Mouse models of RD have been investigated for many years to understand the causes of photoreceptor cell death. Knowledge about these mutations is essential for proper selection of mouse models for use in research. In this chapter, we review these naturally occurring mouse mutants that manifest degeneration of photoreceptors in the retina with preservation of all other retinal cell types. The mutations are described in chronological order and provide a list of the mouse strains that carry each mutation.