Three cases with unusual ophthalmic phenotypes of congenital aniridia.

OBJECTIVE

To report 3 cases with unusual ophthalmic phenotypes of congenital aniridia.

DESIGN

Interventional case series.

PARTICIPANTS

A 10-day-old infant with cloudy and large cornea in both eyes, 1 month-old male with bilateral corneal opacity, and 27-year-old male with low vision.

METHODS

Complete ophthalmic examination and genetic evaluation.

RESULTS

Case 1 was a neonate with concurrent presentation of congenital aniridia and glaucoma. Case 2 was diagnosed as congenital aniridia combined with Peters anomaly in both eyes. Case 3 had 2 unusual features of aniridia, which were asymmetric iris involvement and absence of limbal deficiency.

CONCLUSIONS

It is important to perform thorough ophthalmologic evaluations in patients with congenital aniridia because of the possibilities of coexistence of other ocular abnormalities.