Autosomal Dominant Aniridia in Association With Craniopharyngioma

Abstract

Aniridia or congenital absence of the iris follows an autosomal dominant inheritance pattern with a high degree of penetrance.1Most affected individuals have nystagmus, cataracts, and secondary glaucoma resulting in sharply decreased visual acuity. However, the report of an affected kindred in which 18 of 32 individuals tested had normal visual acuity suggests that there may be more than one autosomal dominant aniridia syndrome.2 About one third of cases of aniridia are thought to be the result of a new mutation, and this form of aniridia is associated with an increased incidence of Wilms' tumor and other congenital malformations.3.4The association of sporadic aniridia-Wilms' tumor and a deletion in the short arm of chromosome 11 has important implications for those interested in the genetic causes of childhood cancer5and in the two-mutation model of tumorigenesis.6In this article we report what we believe is