Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)

Open Access
Publisher Website
Google Scholar
Abstract
Cataract, opacification of the eye lens, is the commonest cause of blindness in the world. During infancy and early childhood it frequently results in visual impairment or blindness. In children, it can cause an irreversible amblyopia. Nearly half of all congenital cataracts are normally characterised as familial and they are perceived to be a key feature if not the predominant feature of about 200 genetic diseases.1– 3 Recent research has paved the way for a better understanding of the underlying mechanisms of inherited forms of cataract. Inherited cataract is clinically heterogeneous, and, thus far, more than 14 distinct loci in humans have been identified, for 11 phenotypically distinct forms of autosomal dominant congenital cataracts (ADCC).4, 5

This publication has 0 references indexed in Scilit: