RPE 65 gene mutation: A rare event in Lebers Congenital Amaurosis patients in Indian subcontinent

摘要

ients underwent detailed ophthalmic examination and were clinically diagnosed for LCA. Family pedigree along with peripheral blood was collected from patients. Genomic DNA was extracted from the blood samples. The coding sequence of all 14 exons and the adjacent flanking intron sequences of the RPE65 gene were PCR amplified and sequenced for all the 20 unrelated LCA patients. Sequence analysis revealed sequence variations in exon -6 in two patients at nucleotide position 601 and in exon 10 at nucleotide position 1110 in one patient. Mutations in the RPE65 gene are rare in patients with LCA in India. It would be ideal to look for mutations in other causative genes for LCA in Indian population.