Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A)

  • Mami Iwamoto
  • Yoshiaki Nawa
  • Irene H. Maumenee
  • Joy Young-Ramsaran
  • Reuben Matalon
  • W. Richard Green
Laboratory Investigations


Morquio syndrome (mucopolysaccharidosis IV) is a hereditary lysosomal storage disease characterized by dwarfism, spondyloepiphyseal and dental abnormalities, corneal opacification, and normal intelligence. We report the light and electron microscopic features of two patients with mucopolysaccharidosis type IV A (MPS IV A). Variable degrees of mucopolysaccharide deposition were seen in tissue surveyed by light microscopy. Transmission electron microscopy demonstrated fibrillogranular and multimembranous membrane-bound inclusions distributed primarily in the cornea and trabecular meshwork, to a milder degree in the conjunctiva and sclera, and rarely in the retinal pigment epithelium. Our findings indicate that the accumulation of mucopolysaccharide in MPS IV A occurs primarily in the structures of the anterior segment.


Retinal Pigment Epithelium Retinal Pigment Pigment Epithelium Anterior Segment Storage Disease 
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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Mami Iwamoto
    • 1
    • 2
  • Yoshiaki Nawa
    • 1
    • 2
  • Irene H. Maumenee
    • 1
  • Joy Young-Ramsaran
    • 2
  • Reuben Matalon
    • 3
  • W. Richard Green
    • 1
    • 2
  1. 1.Wilmer Ophthalmological InstituteJohns Hopkins Medical InstitutionsBaltmoreUSA
  2. 2.Department of PathologyJohns Hopkins Medical InstitutionsBaltimoreUSA
  3. 3.Department of PediatricsUniversity of Illinois College of Medicine at ChicagoChicagoUSA

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