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Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the  ALMS1  gene. Although  ALMS1  gene mutations are associated with Alstrom syndrome (AS), the current patients did not exhibit typical syndromic features of AS. These data suggest that  ALMS1  should be included in the candidate gene panel for LCA to improve diagnostic efficiency.

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis