One Family of Aniridia

ABSTRACT

Aniridia is a congenital lack of iris and rudimentary iris tissue, almost always bilateral, occuring as a dominant characteristic by an autosomal gene with high penetrance and variable expression. The syndrome of congenital aniridia may be composed of four phenotypes. The authors have experienced one an iridic family mother, one daughter and four sons. The most family members have ectopia lentis. cataract. corneal pannus and glaucoma as well as aniridia, so they were expected the first phenotype of aniridia due to a failure in development of retinal ectoderm. Two sons of them were operated in Chungnam National University Hospital for control of glaucoma and visual impairment due to cataractous ectopic lens. In one case the intraocular pressure was not controlled after trabeculectomy and in another case lens extraction resulted in visual improvement. The review was made of relating literatures for the case of aniridia family, breifly.