Wilson’s Disease

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Pathogenesis

  • Deficiency of ceruloplasmin -> extensive copper deposits in tissues

Findings

  • Kayser Fleischer ring 1 = Zone of copper granules in the peripheral part of the Descemet membrane
    • Initially visible only superiorly (gonioscopy)
  • Always perform gonioscopy; discrete manifestation initially visible in the anterior chamber angle 2
  • Sunflower-Cataract 3 : Anterior and posterior subcapsular copper deposits.

Work-up

  • Determine serum copper, ceruloplasmin levels, and urine copper levels
  • Refer to internist/neurologist for therapy
  • Follow-up
    • Successful therapy results in regression of Kayser-Fleischer Ring.
    • Progression over time is an indication of non-compliance

Sources