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

Mami Iwamoto, Yoshiaki Nawa, Irene H. Maumenee, Joy Young-Ramsaran, Reuben Matalon and W. Richard Green

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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.

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