Clinical and histologic ocular findings in pompe disease

• Published in: Journal of pediatric ophthalmology and strabismus Vol. 47; no. 1; pp. 34 - 40
• Main Authors: Yanovitch, Tammy L, Banugaria, Suhrad G, Proia, Alan D, Kishnani, Priya S
• Format: Journal Article
• Language: English
• Published: United States SLACK INCORPORATED 01.01.2010
• Subjects: Blepharoptosis - diagnosis; Blepharoptosis - etiology; Blepharoptosis - metabolism; Blood vessels; Cardiomyopathy; Cornea; Enzyme Replacement Therapy; Enzymes; Glycogen - metabolism; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - metabolism; Glycogen Storage Disease Type II - therapy; Humans; Iris; Keywords; Literature reviews; Oculomotor Muscles - metabolism; Oculomotor Muscles - pathology; Paresis; Patients; Photoreceptors; Retina; Strabismus; Strabismus - diagnosis; Strabismus - etiology; Strabismus - metabolism; Transmission electron microscopy; Transplants & implants
• ISSN: 0191-3913; 1938-2405
• DOI: 10.3928/01913913-20100106-08

Limited information is available on the ocular findings in patients with Pompe disease. 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. 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. 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.