Ocular manifestation of mucopolysaccharidosis I-S (Scheie's syndrome);Okuläre manifestation bei mukopolysaccharidose I-S (Scheie-syndrom)

Klinische Monatsblatter fur Augenheilkunde

Volumn 219, Issue 10, 2002, Pages 745-748

  Viestenz, Arne ^a   Shin, Yoon S ^b   Viestenz, Anja ^a   Naumann, Gottfried O H ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Al pha L iduronidase; Aortic insufficiency; Corneal opacification; Joint stiffness; Mitral insufficiency; MPS I S; Mucopolysaccharidosis; Myopathy; Scheie syndrome

Indexed keywords

HIGH DENSITY LIPOPROTEIN; LEVO IDURONIDASE; LOW DENSITY LIPOPROTEIN; TRIACYLGLYCEROL;

ADULT; AORTA VALVE REGURGITATION; ARTICLE; BIOMICROSCOPY; CASE REPORT; CORNEA STROMA; DIFFERENTIAL DIAGNOSIS; ELECTRORETINOGRAM; ENZYME DEFICIENCY; EYE DISEASE; HUMAN; INTERPHALANGEAL JOINT; JOINT STIFFNESS; NIGHT VISION; PROTEIN BLOOD LEVEL; SCHEIE SYNDROME; TAPETORETINAL DEGENERATION; VISUAL IMPAIRMENT;

CORNEAL OPACITY; DIAGNOSIS, DIFFERENTIAL; HUMANS; IDURONIDASE; KERATOPLASTY, PENETRATING; LEUKOCYTES; MALE; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS I; RECURRENCE;

EID: 18744406674     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-35688     Document Type: Article

References (21)

1. Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology 1990; 97: 1445-1449
2. Fischer TA, Lehr HA, Nixdorf U, Meyer J. Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). Heart 1999; 81: 97-99
3. Goldberg G, Grützner P. Morbus hurler-scheie-compound bei drei geschwistern. Klin Monatsbl Augenheilkd 1985; 187: 120-123
4. Hobbs JR. Bone marrow transplantation for inborn errors. Lancet 1981; 2: 735-739
5. Huang KC, Sukegawa K, Orii T. Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses. Clinica Chimica Acta 1985; 30: 147-156
6. Kakkis ED, Muenzer J, Tiller J, Waber L, Belmont J, Passage M, Lzykowski B, Phillips J, Walot J, Doroshow R, Hoft R, Yu KT, Okazaki S, Lewis D, Lachman R, Neufeld EF. Recombinant α-L-iduronidase replacement therapy in mucopolysaccharidosis. Wien: J. Results of a human clinical trial. Abstracts of the 5th International Symposium on Mucopolysaccharide and Related Diseases, 18-21. März 1999: 104
7. Mandelli J, Wajner A, Pires R, Giugliani R, Coelho JC. Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma α-L-iduronidase. Clinica Chimica Acta 2001; 312: 81-86
8. McKusik VA, Howell RR, Hussels JE, Neufeld EF, Stevenson RE. Allelism, non allelism and genetic compounds among the mucopolysaccharidoses. Lancet 1972; 1: 993-996
9. Minakata K, Konishi Y, Matsumoto M, Miwa S. Surgical treatment for Scheie's syndrome (mucopolysaccharidosis type I-S): Report of two cases. Jpn Circ J 1998; 62: 700-703
10. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hu Genet 1997; 101: 355-358
11. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beauder AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. New York: McGraw-Hill, 1995: 2465-2494
12. Rummelt V, Meyer HJ, Naumann GOH. Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome). Cornea 1992; 11: 86-92
13. Ruprecht KW, Naumann GOH. Auge und allgemeinkrankheiten. In: Naumann GOH (Hrsg): Pathologie des Auges. 2. Aufl. Berlin: Springer, 1997: 1451-1481
14. Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical and biological implications. Hum Mutat 1995; 6: 288-302
15. Summers CG, Purple RL, Krivit W, Pineda II R, Copland GT, Ramsay NK et al. Ocular changes in the mucopolysaccharidoses after bone marrow transplantation. Ophthalmology 1989; 96: 977-985
16. Summers CG, Whitley CB, Holland EJ, Purple RL, Krivit W. Dense peripheral corneal clouding in Scheie syndrome. Cornea 1994; 13: 277-279
17. Tabone E, Grimaud JA, Peyrol S, Grandperret D, Durand L. Ultrastructural aspects of corneal fibrous tissue in the Scheie syndrome. Virchows Arch B Cell Pathol 1978; 27: 63-67
18. Tremblay M, Dube I, Gagne R. Corneal changes in Scheie disease (mucopolysaccharidosis type I-S). J Fr Ophthalmol 1979; 2: 193-197
19. Verrips A, van Engelen BG, ter Laak H, Wesseling P, de Jong J, Gabreels FJ. Scheie syndrome presenting as myopathy. Neuropediatrics 2001; 32: 93-96
20. Wraith JE. Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties. J Inherit Metab Dis 2001; 24: 245-250
21. Yanoff M, Fine BS. Ocular Pathology, 4th Edition. Barcelona: Mosby-Wolfe, 1996: 232-284