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Updated: Dec 27 2021

Kayser-Fleischer Ring

Images
https://upload.medbullets.com/topic/120500/images/kayser-fleischer_ring.jpg
https://upload.medbullets.com/topic/120500/images/kf_ring_2.jpg
https://upload.medbullets.com/topic/120500/images/2560px-kf_ring_and_sunflower_cataract.jpg
  • Snapshot
    • A 44-year-old woman presents to her ophthalmologist for a follow-up visit. She was recently diagnosed with Wilson disease when she initially presented to the hospital for acute liver failure. She currently does not report any acute complaints and says she has been taking her D-penicillamine with zinc salts as prescribed. She undergoes a slit-lamp examination, which demonstrates gray-green deposition in Descemet membrane in the cornea.
  • Introduction
    • Overview
      • an ocular manifestation of Wilson disease, an autosomal recessive disorder of impaired copper excretion
        • can be seen in other clinical conditions
          • primary biliary cirrhosis
          • neonatal cholestasis
  • Epidemiology
    • Risk factors
      • family history
  • etiology
    • Pathophysiology
      • copper deposition in Descemet membrane in the cornea
    • Genetics
      • inheritance pattern
        • autosomal recessive
      • mutations
        • chromosome 13
      • gene
        • ATP7B gene
      • protein
        • copper-transporting P1-type ATPase
  • Studies
    • Patients should be evaluated for Wilson disease
  • Differential
    • Biliary obstruction
      • differentiating factors
        • obstruction found on abdominal imaging (e.g., abdominal ultrasound)
  • DIAGNOSIS
    • Clinical diagnosis
  • Treatment
    • Medical
      • D-penicillamine or trientine
        • indication
          • first-line in symptomatic patients
            • decreases disease progression of Wilson disease
            • chelating agent
      • zinc salt
        • indication
          • helps with symptom improvement
            • impairs copper absorption
  • Complications
    • Complications of Wilson disease, which include
      • acute liver failure (most common)
      • infertility
      • chondrocalcionosis
  • Prognosis
    • Fatal, if not treated
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