Abstract

Mutations causing autosomal dominant retinitis pigmentosa (RP) have been identified in RDS, the human homologue of the gene that was first identified and isolated as the cause of mouse "retinal degeneration slow" or rds (1, 2). The rds gene encodes rds/peripherin, an integral membrane glycoprotein located in outer segment disks (1, 3, 4). More than 15 distinct disease-causing mutations in the RDS gene have been reported (5). The clinical phenotypes include adRP, dominant retinitis punctata albescens, dominant butterfly shaped pigment dystrophy of the fovea and autosomal dominant macular degeneration (6). That RDS mutation can cause either RP and/or macular degeneration is consistent with the observation that the protein is expressed in both rods and cones, though its exact functional role in each photoreceptor must be different. Finally, there is an additional form of retinitis pigmentosa, digenic RP (7) that results from a combination of one mutation in RDS and one in R0M1. Neither mutation alone in a heterozygote causes degeneration.

© 1997 Optical Society of America