Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Mucopolysaccharidosis II (Hunter disease) with corneal opacities

Report on two patients at the extremes of a wide clinical spectrum

  • 63 Accesses

  • 11 Citations


Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.

This is a preview of subscription content, log in to check access.


  1. Bach, G., Eisenberg, F., Cantz, M., Neufeld, E. F.: The defect in the Hunter syndrome: Deficiency of sulfoiduronate sulfatase. Proc. Nat. Acad. Sci. USA 70, 2134–2138 (1973)

  2. Cantz, M., Chrambach, A., Bach, G., Neufeld, E. F.: The Hunter corrective factor. Purification and preliminary characterization. J. Biol. Chem. 247, 5456–5462 (1972a)

  3. Cantz, M., Kresse, H., Barton, R. W., Neufeld, E. F.: Corrective factors for inborn errors of mucopolysaccharide metabolism. Methods Enzymol. 28, 884–897 (1972b)

  4. Danes, B. S.: Corneal clouding in the genetic mucopolysaccharidoses: a cell culture study. Clin. Genet. 4, 1–7 (1973)

  5. Fratantoni, J. C., Hall, C. W., Neufeld, E. F.: The defect in the Hurler and Hunter syndromes: II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc. Nat. Acad. Sci. USA 64, 360–366 (1969)

  6. Gardner, R. J. M., May, J. R.: Hurler's syndrome with clear corneas. Lancet 1974 II, 845

  7. Gehler, J., Cantz, M., Tolksdorf, M., Spranger, J., Gilbert, E., Drube, H.: Mucopolysaccharidosis VII: β-Glucuronidase deficiency. Humangenetik 23, 149–158 (1974)

  8. Hall, C. W., Neufeld, E. F.: α-L-Iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch. Biochem. Biophys. 158, 817–821 (1973)

  9. Lichtenstein, J. R., Bilbrey, G. L., McKusick, V. A.: Clinical and probable genetic heterogeneity within mucopolysaccharidosis II. Johns Hopkins Med. J. 131, 425–435 (1972)

  10. Liebaers, I., Neufeld, E. F.: Iduronate sulfatase activity in serum lymphocytes, and fibroblasts—simplified diagnosis of the Hunter syndrome. Pediat. Res. 10, 733–736 (1976)

  11. McKusick, V. A.: Heritable Disorders of Connective Tissue, 4th ed. St. Louis: Mosby 1972

  12. Neufeld, E. F., Liebaers, K., Epstein, C. J., Yatziv, S., Milunsky, A., Migeon, B. R.: The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am. J. Hum. Genet. 29, 455–461 (1977)

  13. Orii, T., Sukegawa, K., Minami, R., Nakao, T.: Hurler's syndrome without α-L-iduronidase deficiency. Pediatrics 60, 764 (1977)

  14. Rampini, S.: Klinik der Mucopolysaccharidosen. Beih. klin. Pädiat. No. 74 (1976)

  15. Spranger, J.: The systemic mucopolysaccharidoses. Ergebn. inn. Med. Kinderheilk. 32, 165–265 (1972)

  16. van Pelt, J. F.: Gargoylism. Thesis, Nijmwegen. Albert's druckerijen Sittart, Holland (1960)

  17. Yatziv, S., Erickson, R. P., Epstein, C. J.: Mild and severe Hunter syndromes (MPS II) within the same sibships. Clin. Genet. 11, 319–326 (1977)

Download references

Author information

Correspondence to J. Spranger.

Additional information

Supported by grants from the Deutsche Forschungsgemeinschaft and the Stiftung Volkswagenwerk

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Spranger, J., Cantz, M., Gehler, J. et al. Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Eur J Pediatr 129, 11–16 (1978). https://doi.org/10.1007/BF00441369

Download citation

Key words

  • Mucopolysaccharidoses
  • Hunter disease
  • Hurler disease
  • Corneal opacities
  • Sulfoiduronate sulfatase deficiency