Autosomal dominant cataracts and Peters anomaly in a large Australian family

Peters anomaly is a congenital corneal opacity with underlying defects in t he posterior stroma, Descemets membrane and corneal endothelium. It is a di sorder resulting from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris. We report a family in which anterior segment abnormalit ies, including Peters anomaly and cataracts, were inherited in an autosomal dominant fashion. Although the PAX6 gene on chromosome 11 has been shown t o be involved in some cases of anterior segment developmental defects, we f ound no evidence that the condition in this family is linked to the PAX6 ge ne. Identification of this gene will indicate another gene with major invol vement in the development of the anterior segment of the eye.