PURPOSE
Limited information is available on the ocular findings in patients with Pompe disease.
METHOD
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.
CONCLUSION
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.
[J Pediatr Ophthalmol Strabismus 2010;47:34-40.]
AUTHORS
From the Duke Eye Center (TLY); and the Departments of Pathology (ADP) and Division of Medical Genetics, Department of Pediatrics (SB, PK), Duke University, Durham, North Carolina.
Originally submitted July 7, 2008. Accepted for publication September 24, 2008. Posted online May 20, 2009.
A portion of the histologic results in this study was presented by Dr. Alan D. Proia at the Eastern Ophthalmic Pathology Society Meeting, October 4, 2003, Durham, North Carolina.
Dr. Kishnani has received research/grant support from Genzyme Corporation, Cambridge, MA. Dr. Kishnani is a member of the Pompe Disease Advisory Board and the Gaucher Registry Advisory Board for Genzyme Corporation, and has received honoraria from Genzyme Corporation. Alglucosidase alfa (rhGAA), in the form of Genzyme’s product, Myozyme™, has now been approved by the U.S. Food and Drug Administration and the European Union as therapy for Pompe disease. Duke University and inventors for the method of treatment and predecessors of the cell lines used to generate the enzyme (rhGAA, Myozyme) will receive royalty payments pursuant to the University’s Policy on Inventions, Patents and Technology Transfer. Drs. Yanovitch, Banugaria, and Proia have no financial or proprietary interest in the materials presented herein.
Address correspondence to Tammy L. Yanovitch, MD, Duke Eye Center, 2351 Erwin Road, Durham, NC 27710.
doi: 10.3928/01913913-20100106-08
