Ontology highlight
ABSTRACT:
SUBMITTER: Stephan DA
PROVIDER: S-EPMC15341 | biostudies-literature | 1999 Feb
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 19990201 3
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 necessitating removal of the lens in childhood or early adolescence. A genome-wide s ...[more]