Abstract
To report the ultrastructure changes and map the genetic locus for a special phenotype autosomal dominant congenital cataract (ADCC) in a large Chinese family. A large four-generation Chinese family affected by this special phenotype ADCC was analyzed. Clinical examinations, light and transmission electron microscopy analysis of the removed lens tissue were performed. Blood samples were taken for DNA extraction and two-point linkage analyses between the polymorphisms of microsatellite markers near the gamma-crystallin gene (CRYG) and the disease-associated locus was also determined. The lens fiber cells displayed abnormal inter- and intracellular alterations, including irregular refractivity, focal degeneration and irregular and enlarged intracellular spaces. Linkage analysis showed that there was linkage between the ADCC disease-associated locus and D2S2208, D2S2382 and D2S164. There were characteristic alterations to the lens fiber cells of this special phenotype ADCC and the CRYGD gene might be the disease-associated.
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