title: Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A).
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.
authors.affiliation: Wilmer Ophthalmological Institute, Baltimore, MD.
authors.forename: M
authors.initials: M
authors.lastname: Iwamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Nawa
authors.forename: I H
authors.initials: IH
authors.lastname: Maumenee
authors.forename: J
authors.initials: J
authors.lastname: Young-Ramsaran
authors.forename: R
authors.initials: R
authors.lastname: Matalon
authors.forename: W R
authors.initials: WR
authors.lastname: Green
mesh_terms: D000293:Adolescent; D000328:Adult; D000869:Anterior Eye Segment / Q000648:ultrastructure; D002478:Cells, Cultured; D003228:Conjunctiva / Q000648:ultrastructure; D003315:Cornea / Q000648:ultrastructure; D005123:Eye / Q000648:ultrastructure*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000473:pathology*; D014129:Trabecular Meshwork / Q000648:ultrastructure