Aniridia in a 19-Year-Old Woman

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 focusingon objects the way her siblings had. They consulted an ophthalmologistwho diagnosed aniridia. The woman is able to read book print close up andcan ambulate independently, although she has difficulty at times, such aswhen 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 alwayscongenital and bilateral and often familial.Because sporadic cases of Wilms tumor have been reported in patientswith aniridia,¹ periodic renal ultrasonographic screening is required. In thispatient, results of these studies have been consistently negative. Nonvascularizedand nonprogressive pannus of the cornea may be associated withaniridia. Cataracts may develop, and the lens may partially dislocate. A majorcomplication is glaucoma that resists treatment.

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Tasman W, Jaeger EA. The Wills Eye Hospital Atlas of Clinical Ophthalmology. 2nd ed. Philadelphia:Lippincott-Raven; 2001:466.