Abstract
The author presents the histologic and electron-microscopic examination of the cornea of a patient with Maroteaux-Lamy syndrome. Histochemic examinations established the absence of keratin sulfate and heparin sulfate in the accumulated material. By means of electron microscopy three cell types have been found in the stroma which may show, besides the storage of the accumulated glycosaminoglycans, the morphologic signs of the pathologic enzyme-substrate connection. Considering the presence of the lipidlike material, the question arises whether the Maroteaux-Lamy syndrome belongs to mucolipidoses.
Zusammenfassung
Bericht über die histologische und elektronenmikroskopische Untersuchung der Hornhaut bei Maroteaux-Lamy Syndrom. Histochemisch wurde im Speichermaterial das Fehlen von Keratansulfat und Heparansulfat festgestellt. Im Stroma befinden sich drei Zelltypen, die außer der Speicherung der angehäuften Glycosaminoglycans morphologisch für eine pathologische Enzym-Substrat-Verbindung sprechen. Auf Grund der Anwesenheit des Lipid-ähnlichen Materials stellt sich die Frage, ob das Maroteaux-Lamy Syndrom zu den Mucolipidosen gehört.
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References
Anseth, A.: Studies on corneal polysaccharides VIII: Changes in the glycosaminoglycans in some human corneal disorders. Exp. Eye Res. 8, 438–441 (1969)
Fluharty, A.L., Stevens, R.L., Sanders, D.L., Kihara, H.: Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts. Biochem. Biophys. Res. Commun. 59, 455–461 (1974)
Kenyon, K.R., Quigley, H.A., Hussels, I.E., Wyllie, R.G., Goldberg, M.F.: The systemic mucopolysaccharidoses. Am. J. Ophthalmol. 73, 811–833 (1972a)
Kenyon, K.R., Topping, T.M., Green, W.R., Maumenee, A.E.: Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidoses type VI). Am. J. Ophthalmol. 73, 718–741 (1972b)
Kresse, H.: Pathobiochemische Aspekte lysosomaler Enzyme unter besonderer Berücksichtigung lysosomaler Speicherkrankheiten. Wien. Klin. Wochenschr. 90/10, 325–332 (1978)
Módis, L.: Topo-Optical Investigations of Mucopolysaccharides (acid glycosaminoglycans). Handbuch der Histochemie II/4. Stuttgart: Fischer 1974
Modis, L., Süveges, I., Conti, G.: Quantitative polarisationsoptische Untersuchungen an Mucopolysacchariden. Acta Histochem. (Jena) Suppl. XII. 169–176 (1972)
O'Brien, J.F., Cantz, M., Spranger, J.: Maroteaux-Lamy disease (mucopolysaccharidosis VI) subtype A: Deficiency of a N-acetylgalactosamine-4-sulfatase. Biochem. Biophys. Res. Commun. 60, 1170–1177 (1974)
Quigley, H.A., Kenyon, K.R.: Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype). Am. J. Ophthalmol. 77, 809–818 (1974)
Shapira, E., DeGregorio, R.R., Matalon, R., Nadler, H.L.: Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome. Biochem. Biophys. Res. Commun. 62, 448–455 (1975)
Süveges, I.: Histochemical and polarization-microscopic examination of macular corneal dystrophy (Groenouw II). Szemészet, 109, 57–62 (1972)
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Süveges, I. Histological and ultrastructural studies of the cornea in Maroteaux-Lamy syndrome. Albrecht von Graefes Arch. Klin. Ophthalmol. 212, 29–39 (1979). https://doi.org/10.1007/BF00413322
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DOI: https://doi.org/10.1007/BF00413322