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Published on: September 22, 2017
Ptosis, extraocular motility disorder, and myopia as features of pompe disease
Niki W R Slingerland1, Jan Roelof Polling, Catharina M van Gelder
1Department of Ophthalmology, Erasmus University Medical Centre, Rotterdam, The Netherlands.
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.
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