Kayser-Fleischer Ring: A Systems Based Review of the Ophthalmologist’s Role in the Diagnosis of Wilson’s Disease

Emily S. Birkholz, MD, Thomas A. Oetting, MS, MD July 28, 2009 Chief Complaint: Referral for evaluation of Kayser-Fleischer Rings History of Present Illness: The patient was a 25 year old male who had been experiencing a right-sided subcostal tenderness and increasing fatigue for the last several months. He also had noticed dark urine, jaundice and a 60 pound weight loss. The patient was admitted for work-up and treatment of his undiagnosed condition. His inpatient team was concerned about possible Wilson’s disease and referred the patient to the ophthalmology clinic for evaluation of KayserFleischer rings. He had no changes in vision or other ocular complaints. Of note: A liver biopsy at age 14, performed after he was found to have abnormal routine labs prior to a tonsillectomy, showed fatty liver which was thought to be related to his weight. He had no additional follow up. Past Ocular History: None Past Medical History: The patient had a liver biopsy at age 14 with a diagnosis of fatty liver. He also had a tonsillectomy at age 14. Medications: None Family History: There is no family history of liver disease. The patient’s mother was an alcoholic. Social History: The patient is currently incarcerated for burglary. He reports heavy alcohol use (more than one six-pack of beer per day for over eight years). He smokes one pack of cigarettes per day and reports prior use of marijuana, LSD, and cocaine in the past. Review of Systems: The patient reported an unintentional 60 pound weight loss. He has had no mood changes, behavioral changes, or movement disorders.