Corneal clouding in GM1-generalized gangliosidosis

Br J Ophthalmol. 1976 Aug;60(8):565-7. doi: 10.1136/bjo.60.8.565.

Abstract

Corneal clouding is added to the list of clinical and chemical abnormalities which occur both in GM1-generalized gangliosidosis and in Hurler's syndrome (and some other mucopolysaccharidoses). The parents of our patient were first cousin Yemeni and had partial beta-galactosidase deficiency in their leucocytes and cultured fibroblasts.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Corneal Opacity / complications*
  • Female
  • Galactosidases / deficiency
  • Gangliosidoses / complications*
  • Humans
  • Leukocytes / enzymology
  • Mucopolysaccharidosis I / complications

Substances

  • Galactosidases