Secondary Logo

Journal Logo

Institutional members access full text with Ovid®

Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis

Tsilou, Ekaterini T. M.D.; Rubin, Benjamin I. M.D.; Reed, George F. Ph.D.; Iwata, Fumino M.D.; Gahl, William M.D., Ph.D.; Kaiser-Kupfer, Muriel I. M.D.

Clinical Sciences

Purpose. As a result of successful renal transplantation, patients with nephropathic cystinosis are now living into adulthood. As these patients age, anterior segment ocular complications, other than deposition of corneal crystals, become more evident. With our experience with 172 patients followed up at the National Institutes of Health between 1976 and 2000, the prevalence of anterior segment complications in nephropathic cystinosis was determined.

Methods. A cross-sectional examination of age-specific prevalence was performed with logistic regression analysis of prevalence change with age.

Results. Besides the corneal crystals apparent in all age groups, superficial punctate keratopathy, filamentary keratopathy, severe peripheral corneal neovascularization, band keratopathy, and posterior synechiae with iris thickening and transillumination were noted in the older age groups. The prevalence increased with age for each complication.

Conclusions. As patients with cystinosis grow older, more severe ophthalmic manifestations become evident. It remains to be seen how the prevalence of these complications will be altered by early initiation of oral and topical cysteamine therapy.

From the Ophthalmic Genetics and Visual Function Branch (E.T.T., B.I.R. F.I., M.I.K-K.), Division of Biometry and Epidemiology (G.F.R.), National Eye Institute; Section on Human Biochemical Genetics (W.G.), Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, U.S.A.

Submitted May 7, 2001.

Revision received September 27, 2001.

Accepted October 3, 2001.

Address correspondence and reprint requests to Dr. E.T. Tsilou, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Building 10, Room 10N226, Bethesda, MD 20892, U.S.A.; E-mail:

© 2002 Lippincott Williams & Wilkins, Inc.