Table of Contents
Wilson Disease
Main Features
- Hepatic disease due to excess accumulation of copper
- Neurologic impairment from copper overload
- Laboratory findings
- Low serum ceruloplasmin levels <14 mg/dl
- 24 hour urine copper excretion >40 μg
- Treatment involves reducing copper concentrations with penicallamine or Tridentine and liver transplant
Eye Findings
- Kayser-Fleischer rings
- copper deposition in Descemet's membrane
- present in about 50% in those with hepatic disease
- Sunflower Cataracts- radiating multicolored central opacities, less common
- Possible mild retinal neurodegeneration
- thinning of the retinal nerve fiber layer
- delayed VEPs
- Gaze palsy, especially up gaze
Other Findings
Etiology
- Autosomal recessive disorder of copper metabolism from mutations in the ATP7B gene leading to impaired copper secretion
- ATP7B encodes for a copper-transporting ATPase
- 1:40,000 to 1:50,000