Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.

Abstract

This is the first report of mutations in RS1 to be associated with XLRS in the Indian population. The identified genetic variations, phenotype and genotype correlations were consistent with other studies. Identification of the causative mutation in patients with XLRS is helpful in confirming the diagnosis and in counseling of family members.