Article
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
Proceedings of the National Academy of Sciences of the United States of America - 2 Feb 1999
Stephan D A, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis A D, Robbins C M, VanAuken A, Quesenberry M I, Bailey-Wilson J, Juo S H, Trent J M, Smith L, Brownstein M J
Abstract excerpt
Cataracts are a significant public health problem. Here, we describe the genetic alteration responsible for a progressive form of cataract, segregating as an autosomal dominant trait in a three-generation pedigree. Unlike most autosomal dominant cataracts, these are not clinically apparent at birth but are initially observed in the first year or two of life. The opacification evolves relatively slowly, generally...
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