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[Corneal disorders in Wilson's disease].

Zoltán Sohajda1, Márta Hódos1, László Módis2

  • 1Szemészeti Osztály, Kenézy Gyula Egyetemi Oktató Kórház Debrecen, Bartók Béla u. 2-26., 4031.

Orvosi Hetilap
|April 2, 2019
PubMed
Summary

Wilson's disease, a genetic disorder causing copper buildup, affected three siblings. Ophthalmological exams are crucial for diagnosing this metabolic disease, especially when psychiatric symptoms are present.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Ophthalmology

Background:

  • Wilson's disease is an inherited metabolic disorder characterized by excessive copper accumulation in organs.
  • It follows an autosomal recessive inheritance pattern.

Observation:

  • A family with six siblings was studied, identifying three affected individuals (two females, one male) with Wilson's disease.
  • Clinical presentation varied: females had only liver involvement, while the male exhibited psychiatric and ophthalmic symptoms.

Findings:

  • The male patient displayed a corneal disorder with the characteristic Kayser-Fleischer ring.
  • Advanced ophthalmic diagnostic tools, including anterior segment optical coherence tomography, corneal topography, and endothelial specular microscopy, were utilized.
Keywords:
Wilson-kórWilson’s diseaseanterior segment optical coherence tomographyaz elülső szegmentum optikaikoherencia-tomográfiájapachymetryszaruhártya-vastagság

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Implications:

  • Ophthalmological examinations are vital for early Wilson's disease diagnosis.
  • Corneal findings like the Kayser-Fleischer ring can be key indicators, even with systemic or psychiatric manifestations.