Golden Ring in Eyes: All That Glitters Is Not Gold!

A 20-year-old man presented with progressive ascites with pedal edema. On evaluation, he was found to have cirrhosis of the liver with splenomegaly due to portal hypertension. He was nonalcoholic, and viral markers were negative. His clinical examination revealed a golden brown ring at the limbus in both eyes. He underwent a slit-lamp examination that confirmed it to be Kayser-Fleischer ring. His serum ceruloplasmin was 10 mg/dL (low) and 24-hour urinary copper was 160 μg (high). Liver biopsy could not be performed because his prothrombin time was prolonged. A combination of Kayser-Fleischer ring with low serum ceruloplasmin with increased urinary copper confirmed the diagnosis of Wilson disease. He was treated with diuretics and propranolol, and zinc therapy was initiated. He was discharged in stable condition and is on regular follow-up.

Wilson disease is caused by a mutation in ATP7B, which is the copper-transporting gene. ATP7B facilitates the transfer of copper into the Golgi apparatus, where it combines with ceruloplasmin. ATP7B protein deficiency impairs biliary copper excretion, resulting in positive copper balance, hepatic copper accumulation, and copper toxicity from oxidant damage.(1) The free circulating copper is toxic and accumulates in the liver, resulting in hepatocyte degeneration and cirrhosis. When copper-binding sites in the liver are saturated, free copper is released into the circulation and accumulates in other tissues, such as the eye, basal ganglia, and kidneys. This leads to functional derangements and clinical manifestations, such as Kayser-Fleischer ring in the cornea, sunflower cataract in the lens, tremors and rigidity, and renal tubular defects.(2)

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— Parimal Tayde, MD, Anil Wanjari, MD, Vikram Kokate, MBBS

This article originally appeared in April 2012 issue of The American Journal of Medicine.