Article
Crystallin gene mutations in Indian families with inherited pediatric cataract.
Molecular vision - 16 Jun 2008
Devi Ramachandran Ramya, Yao Wenliang, Vijayalakshmi Perumalsamy, Sergeev Yuri V, Sundaresan Periasamy, Hejtmancik J Fielding
Abstract excerpt
PURPOSE: Pediatric cataract is the most common form of treatable childhood blindness and is both clinically and genetically heterogeneous. Autosomal dominant and recessive forms of cataract have been reported to be caused by mutations in 22 different genes so far. Of the cataract mutations reported to date, about half the mutations occur in crystallins, a quarter of the mutations in connexins, and the remainder...
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