Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

PURPOSE To identify the disease-causing genes in families with autosomal recessive RP (ARRP). METHODS Families were screened for homozygosity at candidate gene loci followed by screening of the selected gene for pathogenic mutations if homozygosity was present at a given locus. A total of 34 families were included, of which 24 were consanguineous. Twenty… CONTINUE READING