A clinical and histopathological study of François-Neetens speckled corneal dystrophy

Am J Ophthalmol. 1977 Apr;83(4):554-60. doi: 10.1016/0002-9394(77)90566-9.

Abstract

A 57-year-old black man had François-Neetens speckled dystrophy of the cornea and orbital phycomycosis. Examination of family members confirmed an auto-somal-dominant pattern of inheritance. Light and electron microscopic study of the cornea of a blind eye disclosed that the corneal opacities were represented by swollen, vacuolated keratocytes filled with histochemically demonstrable acid mucopolysaccharide and complex lipids. Thus, this dystrophy may represent a dominantly inherited metabolic disorder confined to the cornea.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cornea / pathology
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / metabolism
  • Corneal Dystrophies, Hereditary / pathology
  • Corneal Opacity / etiology
  • Epithelial Cells
  • Epithelium / pathology
  • Epithelium / ultrastructure
  • Female
  • Genes, Dominant
  • Glycosaminoglycans / analysis
  • Histocytochemistry
  • Humans
  • Lipids / analysis
  • Male
  • Middle Aged
  • Mucopolysaccharidoses / complications
  • Pedigree

Substances

  • Glycosaminoglycans
  • Lipids