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

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)342-349
Number of pages8
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Volume228
Issue number4
DOIs
StatePublished - Jul 1990
Externally publishedYes

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Mucopolysaccharidosis IV
Glycosaminoglycans
Tooth Abnormalities
Lysosomal Storage Diseases
Trabecular Meshwork
Light
Dwarfism
Sclera
Retinal Pigment Epithelium
Conjunctiva
Transmission Electron Microscopy
Intelligence
Cornea
Microscopy
Electrons
Membranes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A). / Iwamoto, Mami; Nawa, Yoshiaki; Maumenee, Irene H.; Young-Ramsaran, Joy; Matalon, Reuben; Green, W. Richard.

In: Graefe's Archive for Clinical and Experimental Ophthalmology, Vol. 228, No. 4, 07.1990, p. 342-349.

Research output: Contribution to journalArticle

Iwamoto, Mami ; Nawa, Yoshiaki ; Maumenee, Irene H. ; Young-Ramsaran, Joy ; Matalon, Reuben ; Green, W. Richard. / Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A). In: Graefe's Archive for Clinical and Experimental Ophthalmology. 1990 ; Vol. 228, No. 4. pp. 342-349.
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