Clinical and histologic ocular findings in Pompe disease

Journal of Pediatric Ophthalmology and Strabismus

Volumn 47, Issue 1, 2010, Pages 34-40

  Yanovitch, Tammy L ^a   Banugaria, Suhrad G ^b   Proia, Alan D ^b   Kishnani, Priya S ^b  

^a DUKE UNIVERSITY EYE CENTER   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN;

ARTICLE; CONVERGENT STRABISMUS; ELECTRON MICROSCOPY; ENZYME REPLACEMENT; EYE EXAMINATION; GLYCOGEN STORAGE DISEASE TYPE 2; HISTOLOGY; HISTOPATHOLOGY; HUMAN; MICROSCOPY; MYOPATHY; PTOSIS; ULTRASTRUCTURE ANALYSIS AND ELECTRON MICROSCOPY;

BLEPHAROPTOSIS; ENZYME REPLACEMENT THERAPY; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; OCULOMOTOR MUSCLES; STRABISMUS;

EID: 76149130405     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: 10.3928/01913913-20100106-08     Document Type: Article

References (34)

1. Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002;2:145-166.
2. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. May 2004;144(5 suppl):S35-S43.
3. Koeberl DD, Kishnani PS, Chen YT. Glycogen storage disease types I and II: treatment updates. J Inherit Metab Dis. 2007;30:159-164.
4. Pompe JC. Over idiopatische hypertrophie van het hart. Ned Tijdshr Geneeskd. 1932;76:304.
5. Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J. 1963;86:11-16.
6. Hers HG. Inborn lysosomal diseases. Gastroenterology. 1965;48:625-633.
7. Baudhuin P, Hers HG, Loeb H. An electron microscopic and biochemical study of type IiI glycogenosis. Lab Invest. 1964;13:1139-1152.
8. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267-288.
9. Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr. 2000;137:283-285.
10. Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005;128(Pt 3):671-677.
11. van den Hout HM, Hop W, van Diggelen OP, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112:332-340.
12. Myozyme (package insert). Cambridge, MA: Genzyme Corporation; 2006.
13. Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord. 2005;15:24-31.
14. van der Ploeg A, Clemens P, Corzo D, Escolar D, Florence J, Laforet P. Results from a randomized, double-blind multicenter, multinational, placebo-controlled study of the safety and efficacy of Myozyme, recombinant human acid alpha-glucosidase (rhGAA), for the treatment of Pompe disease in juveniles and adults [abstract]. Presented at the 60th Annual Meeting of the American Academy of Neurology; April 12-19, 2008; Chicago, IL.
15. Amalfitano A, Bengur AR, Morse RP, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 2001;3:132-138.
16. Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, Smeitink JA, Van der Ploeg AT. Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24:266-274.
17. Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113:e448-e457.
18. Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord. 2005;15:24-31.
19. Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149:89-97.
20. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99-109.
21. Cook AL, Kishnani PS, Carboni MP, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:313-317.
22. Case LE, Hanna R, Frush DP, et al. Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol. 2007;37:437-445.
23. Kamphoven JH, de Ruiter MM, Winkel LP, et al. Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neurobiol Dis. 2004;16:14-20.
24. Smith RS, Reinecke RD. Electron microscopy of ocular muscle in type II glycogenosis (Pompe's disease). Am J Ophthalmol. 1972;73:965-970.
25. Goebel HH, Kohlschutter A, Pilz H. Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease). Ophthalmologica. 1978;176:61-68.
26. Barnes D, Hughes RA, Spencer GT. Adult-onset acid maltase deficiency with prominent bulbar involvement and ptosis. J R Soc Med. 1993;86:50.
27. De Wilde F, D'Haens M, Smet H, Martin JJ, Tassignon MJ. Surgical treatment of myogenic blepharoptosis. Bull Soc Belge Ophtalmol. 1995;255:139-146.
28. Groen WB, Leen WG, Vos AM, Cruysberg JR, van Doorn PA, van Engelen BG. Ptosis as a feature of late-onset glycogenosis type II. Neurology. 2006;67:2261-2262.
29. Ravaglia S, Repetto A, De Filippi P, Danesino C. Ptosis as a feature of late-onset glycogenosis type II. Neurology. 2007;69:116.
30. Toussaint D, Danis P. [Eye histopathology study of a case of generalized glycogenosis (Pompe disease).]. Bull Soc Belge Ophtalmol. 1964;137:313-325.
31. van der Walt JD, Swash M, Leake J, Cox EL. The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Muscle Nerve. 1987;10:272-281.
32. Libert J, Martin JJ, Ceuterick C, Danis P. Ocular ultrastructural study in a fetus with type II glycogenosis. Br J Ophthalmol. 1977;61:476-482.
33. Pokorny KS, Ritch R, Friedman AH, Desnick RJ. Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease). Invest Ophthalmol Vis Sci. 1982;22:25-31.
34. von Noorden G. Binocular Vision and Ocular Motility: Theory and Management of Strabismus, 6th ed. St. Louis: Mosby; 2001:1974.