Aniridia in a 27-Year-Old Woman

September 14, 2005
Charles E. Crutchfield III, MD

,
Eric J. Lewis, MD

Severely limited vision plagues this 27-year-old woman with aniridia, the bilateral absence of the iris of the eye.

Severely limited vision plagues this 27-year-old woman with aniridia, the bilateral absence of the iris of the eye. Drs Charles E. Crutchfield, III and Eric J. Lewis of Minneapolis comment that this is a rare panocular disorder that may involve not only the iris but the retina, optic nerve, lens, and cornea as well.1 Nystagmus, glaucoma, cataracts, corneal opacities, and retinal hypoplasia account for the deterioration in visual acuity.

Aniridia may be inherited via an autosomal dominant trait or can occur spontaneously in association with at least 12 syndromes, including Wilm's tumor. The exact mutation has been localized to chromosome 11.2 Genetic diagnosis is possible; appropriate chromosomal analysis should precede patient and family counseling.

This patient's vision has steadily deteriorated over the past several years. She is being followed by an ophthalmologist, a neurologist, and her primary care physician.

REFERENCES:1. Nelson WE, Behrman RE, Kliegman R, Arvin AM. Nelson Textbook of Pediatrics. 15th ed. Philadelphia: WB Saunders Company 1996.
2. Ivanov I, Shuper A, Shohat M, et al. Aniridia: recent achievements in paediatric practice. Eur J Pediatr. 1995;154:795-800.

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