[Differential diagnostic considerations in aniridia congenita and progressive iris atrophy]

The autosomal dominant mode of inheritance in aniridia congenita and in dysgenesis mesodermalis (Rieger's syndrome) usually facilitates differentiation from progressive iris atrophy, whose occurrence is, with very few exceptions, sporadic. However, due to incomplete penetration, aniridia and Rieger's syndrome cannot be ruled out by family history alone. In addition, aniridia may closely resemble certain stages of iris atrophy. For appropriate genetic counseling, the reliability of differentiation between the dominantly inherited conditions and sporadic dystrophy has to be verified by: a) looking for extraocular manifestations of Rieger's syndrome or b) clear evidence of a progressive course in cases of essential iris atrophy.