Clinical and histologic ocular findings in pompe disease.
OBJECTIVE
Limited information is available on the ocular findings in patients with Pompe disease.


METHODS
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.


CONCLUSIONS
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.
Duke Eye Center, Duke University, Durham, North Carolina, USA.
Tammy L
TL
Yanovitch
Suhrad G
SG
Banugaria
Alan D
AD
Proia
Priya S
PS
Kishnani
D001763:Blepharoptosis / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism; D056947:Enzyme Replacement Therapy; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D009801:Oculomotor Muscles / Q000378:metabolism / Q000473:pathology*; D013285:Strabismus / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism
D006003:Glycogen