[Fabry's disease in ophthalmology (author's transl)]

J Fr Ophtalmol. 1980;3(11):625-30.
[Article in French]

Abstract

The authors report a new case of Fabry's disease and emphasize the easiness of diagnosis on simple slit lamp examination of the affected males and conductor females. This disease is transmitted as X linked so that both heterozygotes and hemizygotes show a corneal storage known as cornea verticillata. The clinical features are completed by a conjunctival biopsy and the electron microscopy study shows lamellar bodies in the lysozomes.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Child
  • Conjunctiva / ultrastructure
  • Cornea / pathology
  • Corneal Dystrophies, Hereditary / etiology
  • Eye Diseases / etiology*
  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics
  • Female
  • Humans
  • Lysosomes / ultrastructure
  • Male
  • Tears / enzymology
  • alpha-Galactosidase / metabolism

Substances

  • alpha-Galactosidase