Identification of genes causing photoreceptor degenerations leading to blindness

Abstract

At least 15 genes with defects responsible for various forms of inherited retinal disease involving photoreceptor loss have been identified over the past eight years. Several of the genes were first considered as candidates for study because of their involvement in murine retinal disease, others because of their chromosomal loci. In two cases, novel genes were uncovered by positional cloning. Based on reports of disease loci for which no gene has yet been found, more than twice as many genes remain to be identified in this genetically heterogeneous group of diseases.