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Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

Publication ,  Journal Article
Prakalapakorn, SG; Proia, AD; Yanovitch, TL; DeArmey, S; Mendelsohn, NJ; Aleck, KA; Kishnani, PS
Published in: J Pediatr Ophthalmol Strabismus
2014

PURPOSE: To report the ophthalmologic and histologic findings in a series of children with infantile Pompe disease treated with enzyme replacement therapy (ERT). METHODS: Records of children with infantile Pompe disease treated with ERT who had at least one complete ophthalmic examination and the ocular histopathology of children with infantile Pompe disease who were treated with ERT were reviewed. The patients' clinical history, including external ocular examination, ocular alignment and motility, dilated fundus examination, and cycloplegic refraction, was evaluated. A literature review was performed for ophthalmologic findings in infantile Pompe disease using PubMed. RESULTS: The clinical findings of 13 children were included and the ocular histopathology of 3 children with infantile Pompe disease who were treated with ERT were reviewed. Forty-six percent (6 of 13) had bilateral ptosis, 23% (3 of 13) had strabismus, 62% (8 of 13) had myopia, and 69% (9 of 13) had astigmatism. On histologic examination, there was vacuolar myopathy affecting the extraocular muscles, ciliary body, and iris smooth muscle and glycogen accumulation in corneal endothelial, lens epithelium, and retinal ganglion cells, and within lysosomes of scleral fibroblasts. CONCLUSIONS: It is important that ophthalmic providers are aware of the high prevalence of myopia, astigmatism, and ptosis in children with infantile Pompe disease treated with ERT because they are potentially amblyogenic but treatable factors.

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Published In

J Pediatr Ophthalmol Strabismus

DOI

EISSN

1938-2405

Publication Date

2014

Volume

51

Issue

6

Start / End Page

355 / 362

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Strabismus
  • Ophthalmology & Optometry
  • Oculomotor Muscles
  • Myopia
  • Muscle, Smooth
  • Male
  • Iris
  • Infant
  • Humans
 

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Prakalapakorn, S. G., Proia, A. D., Yanovitch, T. L., DeArmey, S., Mendelsohn, N. J., Aleck, K. A., & Kishnani, P. S. (2014). Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy. J Pediatr Ophthalmol Strabismus, 51(6), 355–362. https://doi.org/10.3928/01913913-20140813-01
Prakalapakorn, S Grace, Alan D. Proia, Tammy L. Yanovitch, Stephanie DeArmey, Nancy J. Mendelsohn, Kyrieckos A. Aleck, and Priya S. Kishnani. “Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.J Pediatr Ophthalmol Strabismus 51, no. 6 (2014): 355–62. https://doi.org/10.3928/01913913-20140813-01.
Prakalapakorn SG, Proia AD, Yanovitch TL, DeArmey S, Mendelsohn NJ, Aleck KA, et al. Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy. J Pediatr Ophthalmol Strabismus. 2014;51(6):355–62.
Prakalapakorn, S. Grace, et al. “Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.J Pediatr Ophthalmol Strabismus, vol. 51, no. 6, 2014, pp. 355–62. Pubmed, doi:10.3928/01913913-20140813-01.
Prakalapakorn SG, Proia AD, Yanovitch TL, DeArmey S, Mendelsohn NJ, Aleck KA, Kishnani PS. Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy. J Pediatr Ophthalmol Strabismus. 2014;51(6):355–362.

Published In

J Pediatr Ophthalmol Strabismus

DOI

EISSN

1938-2405

Publication Date

2014

Volume

51

Issue

6

Start / End Page

355 / 362

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Strabismus
  • Ophthalmology & Optometry
  • Oculomotor Muscles
  • Myopia
  • Muscle, Smooth
  • Male
  • Iris
  • Infant
  • Humans