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.

Extraocular motility disorder, Frontalis suspension, Myopia, Pompe disease, Ptosis
dx.doi.org/10.3109/01676830.2010.546932, hdl.handle.net/1765/25624
Orbit
Erasmus MC: University Medical Center Rotterdam

Slingerland, N.W.R, Polling, J.R, Van Gelder, C.M, van der Ploeg, A.T, & Bleyen, I. (2011). Ptosis, extraocular motility disorder, and myopia as features of pompe disease. Orbit, 30(2), 111–113. doi:10.3109/01676830.2010.546932