Abstract
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.
Highlights
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease
Accounting for 10–20% of childhood blindness, LCA is clinically heterogeneous; it is reported as an isolated clinical entity as well as in certain syndromes, such as Joubert syndrome[2], thiamine-responsive megaloblastic anemia[3], Senior-Loken syndrome[4], and Batten’s disease[5]
LCA is predominantly inherited as an autosomal recessive disease and rarely as an autosomal dominant disease
Summary
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. Mutations in at least 25 genes have been identified as causing LCA6. Correspondence: Sinnakaruppan Mathavan (mathavans@snmail.org) 1SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India 2School of Chemical and Biotechnology, SASTRA deemed to-be University, Thanjavur, India Full list of author information is available at the end of the article
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