Cataracts in Morquio syndrome (mucopolysaccharidosis IV A)

Ophthalmic Paediatr Genet. 1993 Jun;14(2):87-9. doi: 10.3109/13816819309042908.

Abstract

Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with skeletal deformities, odontoid anomalies, hearing loss and corneal clouding, the authors found almost identical lens opacities in all three patients. Lenticular opacities have not previously been described in patients with Morquio's syndrome IV A.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cataract / complications
  • Cataract / diagnosis*
  • Cells, Cultured
  • Child
  • Chondroitinsulfatases / metabolism
  • Consanguinity
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Lens, Crystalline / pathology*
  • Male
  • Mucopolysaccharidosis IV / complications
  • Mucopolysaccharidosis IV / diagnosis*
  • Mucopolysaccharidosis IV / genetics
  • Pedigree

Substances

  • Chondroitinsulfatases