Aniridia

The irides of a legally blind 19-year-old woman had been absent since birth. When she was 6 weeks of age, her parents noted that she was not focusing on objects the way her siblings had. They consulted an ophthalmologist who diagnosed aniridia.

The woman is able to read book print close up and can ambulate independently, although she has difficulty at times, such as when stepping off a curb in unfamiliar surroundings. Aniridia implies absence of the iris, but the iris remnant is actually present; it is hypoplastic, often hidden behind the sclera. The condition is always congenital and bilateral and often familial.

Because sporadic cases of Wilms tumor have been reported in patients with aniridia,¹ periodic renal ultrasonographic screening is required. In this patient, results of these studies have been consistently negative. Nonvascularized and nonprogressive pannus of the cornea may be associated with aniridia. Cataracts may develop, and the lens may partially dislocate.

A major complication is glaucoma that resists treatment.