caa a22 4500 46577783X CHVBK 20180323111947.0 cr unu---uuuuu 170327e19900701xx s 000 0 eng 10.1007/BF00920060 doi (NATIONALLICENCE)springer-10.1007/BF00920060 Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A) [Elektronische Daten] [Mami Iwamoto, Yoshiaki Nawa, Irene Maumenee, Joy Young-Ramsaran, Reuben Matalon, W. Green] 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. Springer-Verlag, 1990 Iwamoto Mami Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut Nawa Yoshiaki Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut Maumenee Irene Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut Young-Ramsaran Joy Department of Pathology, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltimore, MD, USA aut Matalon Reuben Department of Pediatrics, University of Illinois College of Medicine at Chicago, 840 South Wood Street, 60612, Chicago, IL, USA aut Green W. Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut Graefe's Archive for Clinical and Experimental Ophthalmology Springer-Verlag 228/4(1990-07-01), 342-349 0721-832X 228:4<342 1990 228 417 https://doi.org/10.1007/BF00920060 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00920060 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Iwamoto Mami Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut NATIONALLICENCE 700 1- Nawa Yoshiaki Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut NATIONALLICENCE 700 1- Maumenee Irene Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut NATIONALLICENCE 700 1- Young-Ramsaran Joy Department of Pathology, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Matalon Reuben Department of Pediatrics, University of Illinois College of Medicine at Chicago, 840 South Wood Street, 60612, Chicago, IL, USA aut NATIONALLICENCE 700 1- Green W. Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, 600 N. Wolfe Street, 21205, Baltmore, MD, USA aut NATIONALLICENCE 773 0- Graefe's Archive for Clinical and Experimental Ophthalmology Springer-Verlag 228/4(1990-07-01), 342-349 0721-832X 228:4<342 1990 228 417 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer