Kayser-Fleischer rings
Summary
Kayser-Fleischer rings are golden-brown corneal deposits of copper seen in Wilson's disease (hepatolenticular degeneration). They appear as circular deposits at the periphery of the cornea and are virtually pathognomonic for Wilson's disease when present with neurologic or hepatic symptoms.
Detail
Kayser-Fleischer rings result from copper deposition in Descemet's membrane of the cornea due to impaired copper metabolism in Wilson's disease. Wilson's disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, leading to defective copper transport and accumulation in various organs including the liver, brain, and eyes. The rings typically appear as golden-brown or greenish deposits at the corneal limbus and are best visualized with slit-lamp examination by an ophthalmologist. They are present in approximately 90% of patients with neurologic Wilson's disease and 50-60% of those with hepatic presentations. The rings may fade with effective copper chelation therapy (penicillamine or trientine). Other ocular findings in Wilson's disease include sunflower cataracts. Early detection is crucial as Wilson's disease is treatable but fatal if left untreated, progressing from hepatic to neuropsychiatric manifestations.
Sources
- Robbins and Cotran Pathologic Basis of Disease
- First Aid for the USMLE Step 1
- American Association for the Study of Liver Diseases Practice Guidelines
- Ophthalmology textbooks (Yanoff & Duker)
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