Ophthalmic Case Study (Wilson's Disease)

June 05, 2023

 

 Chief Complaint

Referral for evaluation of Kayser-Fleischer rings.

History of Present Illness:

The patient was a 25-year-old male who presented with right-sided subcostal tenderness and increasing fatigue over the past few months. He also noticed dark urine, jaundice, and a weight loss of 60 pounds. The patient was admitted for evaluation and treatment of his undiagnosed condition. His admitting team was concerned about possible Wilson's disease and referred the patient to the ophthalmology clinic for evaluation of Kayser-Fleischer rings. He had no changes in vision or other ocular complaints.

Of note, a liver biopsy at the age of 14, performed after abnormal routine exams were discovered prior to a tonsillectomy, showed fatty liver thought to be related to his weight. He did not have any further follow-up.

Past Ocular History: None

Medical History: The patient had a liver biopsy at the age of 14 with a diagnosis of fatty liver. He also had a tonsillectomy at the age of 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 theft. He reports abusive alcohol use (more than a six-pack of beer per day for over eight years). He smokes a pack of cigarettes per day and reports previous use of marijuana, LSD, and cocaine in the past.

Review of Systems: The patient reported unintentional weight loss of 60 pounds. He had no changes in mood, behavioral alterations, or movement disorders.

Ocular Examination:

  • Best corrected visual acuity: 20/20 OD and 20/20 OS.
  • Pupils: 6 mm in the dark, 3 mm in light, no relative afferent pupillary defect (RAPD).
  • Intraocular Pressure (IOP): 12 mmHg OD and 14 mmHg OS.
  • Extraocular Movements (EOM): Full in both eyes.
  • Confrontation Visual Field (CVF): Full in both eyes.
  • Anterior Segment (refer to Figure 1): Scleral icterus, a 1-2 mm golden-brown band seen at the limbus in both eyes.
  • Dilated Fundus Examination (DFE): Normal discs, macula, periphery, and vessels in both eyes.

Diagnosis

Wilson's Disease
  • Fig1

    Fig 2

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