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[Prevalence of Kayser-Fleischer ring in patients with Wilson's disease]

Grzegorz Oracz1, Dorota Klimczak-Slaczka, Anna Sokołowska-Oracz

  • 1Z Kliniki Gastroenterologii, Hepatologii i Immunologii Instytutu-Pomnika Centrum Zdrowia Dziecka w Warszawie.

Klinika Oczna
|August 2, 2005
PubMed

Insights

Kayser-Fleischer rings are rare in pediatric Wilson's disease patients, with only 5.6% prevalence observed. Absence of these rings does not rule out the diagnosis in children.

Area of Science:

  • Ophthalmology
  • Pediatric Genetics
  • Hepatology

Context:

  • Wilson's disease is a rare genetic disorder causing copper accumulation.
  • Ophthalmic examination is crucial for diagnosing Wilson's disease.
  • Kayser-Fleischer rings are a hallmark sign, but their prevalence in children is not well-established.

Purpose:

  • To determine the prevalence of Kayser-Fleischer rings in children diagnosed with Wilson's disease.
  • To evaluate the diagnostic utility of Kayser-Fleischer rings in pediatric Wilson's disease.

Summary:

  • A study examined 36 children (ages 7-17) with Wilson's disease via slit-lamp biomicroscopy.
  • Kayser-Fleischer rings were detected in 2 patients (5.6%), one with liver and neurological symptoms.
  • The rings resolved after treatment in one patient; absence of rings did not exclude the diagnosis.

Impact:

  • Highlights the low prevalence of Kayser-Fleischer rings in pediatric Wilson's disease.
  • Emphasizes that a negative ophthalmic finding does not preclude a Wilson's disease diagnosis in children.
  • Informs clinical practice regarding the interpretation of ophthalmic findings in pediatric Wilson's disease.

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