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Photo Essay
October 2001

Wilson Disease

Arch Ophthalmol. 2001;119(10):No Pagination Specified. doi:10.1001/archopht.119.10.1556

A 20-YEAR-OLD white man developed progressive dysarthria and gait ataxia during a 6-month period. An ophthalmologic examination revealed normal vision, hypometric saccadic eye movements, and prominent Kayser-Fleischer (K-F) rings in each eye (Figure 1). During gonioscopy, the pigmented corneal stroma was evident anterior to the trabecular meshwork (Figure 2). We reviewed the literature written in English using the Medline database and could find no previously published gonioscopic photograph of a K-F ring. Magnetic resonance imaging of the brain showed high signal intensity changes in the basal ganglia and thalamus (Figure 3). The diagnosis of Wilson disease was confirmed with laboratory testing showing low serum ceruloplasmin (8.3 mg/dL; normal range, 22.2-58.5 mg/dL) and low 24-hour urine copper (42 µg/dL [6.6 µmol/L]; normal range, 70-140 µg/dL [11.0-22.0 µmol/L]) concentrations. The patient was treated with triethylenetetramine dihydrochloride, a copper-chelating agent. This medication was chosen as an alternative to D-penicillamine, the standard therapy, because the patient had concurrent thrombocytopenia. Owing to noncompliance with treatment, the patient failed to show significant resolution of symptoms or of the K-F rings.