Wilson Disease

  • Autosomal recessive disorder with copper accumulation in liver, brain, cornea
  • Major systemic manifestations: liver dysfunction and parkinsonism
  • Main ophthalmic manifestation: Kayser-Fleischer ring
  • Subtle golden brown or greenish-brown discoloration of corneal limbus
  • Caused by copper accumulation in Descemet membrane deep within cornea
  • Present in over 90% of cases with neurologic involvement but in less than 50% with liver involvement alone
  • Best seen at top and bottom of cornea, but...
  • Special instruments needed to identify it
  • Multi-colored cataract with radiating spokes ("sunflower cataract") occurs in 20% of cases
  • Primary biliary cirrhosis
  • Intrahepatic cholestasis
  • Biliary atresia
  • Hepatocellular disorders, but...
  • These non-Wilson diseases produce corneal rings only if total bilirubin rises acutely above 20 mg/dl
  • Refer patient suspected of Wilson disease to ophthalmologist to check for Kayser-Fleischer corneal ring and sunflower cataract
  • Diagnosis rests on finding Kayser-Fleischer ring, high urinary copper, low serum ceruloplasmin, low serum copper, and high copper on liver biopsy, but...
  • Serum, urine, and biopsy results may not be definitive, so Kayser-Fleischer ring is critical finding
  • Treatment with penicillamine, zinc, or ammonium tetrathiomolybdate most effective if started early
  • Kayser-Fleischer ring disappears as tissue copper levels fall, but...
  • Its disappearance does not mean that neurologic manifestations will reverse