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- W2126883313 abstract "Purpose: Limited information is available on the ocular findings in patients with Pompe disease. Method: This study summarizes this information with a systematic literature review; reports the ocular histologic findings seen in a deceased infant with Pompe disease who was receiving enzyme replacement therapy and in a deceased adult with late-onset Pompe disease; and notes the new observation of ptosis in children with infantile-onset Pompe disease who are receiving enzyme replacement therapy. Results: Six articles were found on the ultrastructural-histopathologic eye findings in Pompe disease. Previously reported clinical ocular findings included strabismus and ptosis. Glycogen accumulation and vacuolar myopathy have been seen histologically. Conclusion: Based on these clinical and histologic reports, patients with Pompe disease may have an increased incidence of ocular abnormalities, such as ptosis and strabismus, and therefore should undergo ophthalmologic examination. [J Pediatr Ophthalmol Strabismus 2010;47:34–40.]" @default.
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- W2126883313 date "2010-01-01" @default.
- W2126883313 modified "2023-10-16" @default.
- W2126883313 title "Clinical and Histologic Ocular Findings in Pompe Disease" @default.
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- W2126883313 doi "https://doi.org/10.3928/01913913-20100106-08" @default.
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