PURPOSE: To describe a case in which the recognition by the ophthalmologist of Kayser-Fleischer rings played a crucial role in the diagnosis of Wilson disease (hepatolenticular degeneration). DESIGN: Interventional case report. METHODS: An 18-year-old woman was found to have bilateral peripheral golden brown pigment deposits at the level of the Descemet membrane consistent with Kayser-Fleischer rings. She initially denied systemic symptoms. RESULTS: The serum cerumoplasmin level of the patient was normal. Liver function tests were also normal. Further evaluations with 24-hour urine copper assay and liver biopsy were positive for Wilson disease. She underwent anticopper therapy and, 6 months later, reported improved concentration and balance. No appreciable change occurred in the Kayser-Fleischer rings. CONCLUSION: Wilson disease occurs when a defective copper-transporting enzyme in the liver results in toxic copper accumulation in multiple organs. Because of the insidious nature of the disease, patients may not seek medical attention until severe irreversible damage has occurred. By diagnosis of Kayser-Fleischer rings, ophthalmologists may play a critical role in the early recognition and proper evaluation of such patients.
PURPOSE: To describe a case in which the recognition by the ophthalmologist of Kayser-Fleischer rings played a crucial role in the diagnosis of Wilson disease (hepatolenticular degeneration). DESIGN: Interventional case report. METHODS: An 18-year-old woman was found to have bilateral peripheral golden brown pigment deposits at the level of the Descemet membrane consistent with Kayser-Fleischer rings. She initially denied systemic symptoms. RESULTS: The serum cerumoplasmin level of the patient was normal. Liver function tests were also normal. Further evaluations with 24-hour urine copper assay and liver biopsy were positive for Wilson disease. She underwent anticopper therapy and, 6 months later, reported improved concentration and balance. No appreciable change occurred in the Kayser-Fleischer rings. CONCLUSION:Wilson disease occurs when a defective copper-transporting enzyme in the liver results in toxic copper accumulation in multiple organs. Because of the insidious nature of the disease, patients may not seek medical attention until severe irreversible damage has occurred. By diagnosis of Kayser-Fleischer rings, ophthalmologists may play a critical role in the early recognition and proper evaluation of such patients.