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Orbit. 2011 Mar;30(2):111-3. doi: 10.3109/01676830.2010.546932.

Ptosis, extraocular motility disorder, and myopia as features of pompe disease.

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1
Department of Ophthalmology, Erasmus University Medical Centre, Rotterdam, The Netherlands.

Abstract

PURPOSE:

The assets of this report are a thorough description of new clinical findings, namely the combination of ptosis, extraocular motility disorder and myopia, in consequence of prolonged survival in classic infantile-onset Pompe disease through enzyme therapy.

DESIGN:

Single case description.

RESULTS:

This manuscript describes a combination of ptosis, extraocular motility disorder and myopia in a 4.5-year-old patient with classic infantile-onset Pompe disease, who survived through enzyme therapy. This patient was treated with a bilateral frontalis suspension (modified Crawford technique) using prolene 3-0 sutures.

CONCLUSIONS:

The combination of ptosis, extraocular motility disorder and myopia, is a new clinical finding in children with classic infantile-onset Pompe disease.

PMID:
21438734
DOI:
10.3109/01676830.2010.546932
[Indexed for MEDLINE]
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