Wilson’s Disease: Ophthalmic Manifestations

  • The two classic ophthalmic manifestations of Wilson’s disease are the “Kayser-Fleischer ring” (copper deposition around the corneal limbus) and the “Sunflower cataract” (copper deposition in the lens)
  • Wilson’s disease rarely affects vision (unless the sunflower cataract is very advanced)
  • Unless the disease is very advanced and/or has been present for years, it is impossible for one to detect subtle copper deposition in the cornea, iridocorneal angle, or lens without an officebased slit lamp exam and gonioscopy (only available in the outpt setting)
    • The presence or absence of a Kayser-Fleischer ring does not rule in or rule out the disease
    • Testing for decreased ceruloplasmin, urinary copper levels, and genetic testing are more effective diagnostic methods
  • If concerned about the visual impact of a developing sunflower cataract, an outpt ophthalmology referral is appropriate
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