Molecular genetic studies on retinal dystrophies

Abstract

Retinal dystrophies are a clinically and genetically heterogeneous group of progressive newlinedisorders in which retinal cells undergo degeneration and death, leading to either partial newlineor complete blindness. Retinitis Pigmentosa (RP) is the most common type of retinal newlinedystrophy with a worldwide prevalence ranging from 1: 1000 8000. Most forms of newlineretinitis pigmentosa are monogenic and have classical inheritance patterns of autosomal newlinedominant, autosomal recessive, X-linked or mitochondrial (maternally inherited). newlineHowever, they show extensive genetic and clinical heterogeneity, with over 40 genes newlineidentified till date and possibly, more to be identified. Identification of mutations in newlinefamilies with retinal dystrophy is possible by various approaches ranging from whole newlinegenome mapping, linkage and/or haplotyping of candidate gene loci, to direct screening newlineof candidate genes for mutations. newlineThe aims of this study were- (1) to identify the disease genes in families with newlineautosomal recessive retinitis pigmentosa by homozygosity screening. (2) to map the newlinedisease locus in a family with autosomal dominant retinitis pigmentosa. (3) to determine newlinethe role of the RD3 gene in human retinal dystrophy by mutational screening of 100 newlineunrelated patients.