Ptosis, Extraocular Motility Disorder, and Myopia as Features of Pompe Disease

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.

KEYWORDS:

• Pompe disease
• Ptosis
• Extraocular motility disorder
• Myopia
• Frontalis suspension

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.