Molecular genetics of central retinal dystrophies

Abstract

A range of chorioretinal dystrophies that principally affect the central retina have recently been associated with either specific genetic mutations or mapped to refined genomic loci. Mutations of two genes, peripherin/RDS (chromosome 6p) and TIMP3 (chromosome 22q) have been shown to be of particular importance to this group of disorders. Other conditions such as Stargardt's disease, Best's disease, pattern dystrophy, cone dystrophy and cone-rod dystrophy have been mapped to different regions of the genome, however the underlying genetic mutations await identification. Molecular genetic diagnostic techniques are now available for a number of central choroidoretinal dystrophies allowing for earlier, accurate diagnosis and laying the groundwork for future studies of potential therapeutic protocols.