Kayser-Fleischer ring as the presenting sign of Wilson disease.
OBJECTIVE
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).


METHODS
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.


CONCLUSIONS
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.
Liu
Mimi
M
Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. mimiliu@hotmail.com
Cohen
Elisabeth J
EJ
Brewer
George J
GJ
Laibson
Peter R
PR
D000293:Adolescent; D001706:Biopsy; D002570:Ceruloplasmin / Q000378:metabolism; D003300:Copper / Q000652:urine; D003316:Corneal Diseases / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D003886:Descemet Membrane / Q000187:drug effects / Q000473:pathology*; D004359:Drug Therapy, Combination; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008111:Liver Function Tests; D008982:Molybdenum / Q000627:therapeutic use; D019345:Zinc Acetate / Q000627:therapeutic use
D003300:Copper; D008982:Molybdenum; C020809:tetrathiomolybdate; D002570:Ceruloplasmin; D019345:Zinc Acetate