Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation

Abstract

We describe a family in which autosomal dominant anterior polar cataracts are segregating in four members over three generations with an apparently balanced reciprocal translocation between chromosomes 2 and 14. We conclude that altered function of a gene or genes on chromosomes 2 or 14 are important in the embryological development of the lens.