Pompe disease and ophthalmopathy: literature review

Large number of ophthalmological problems has been found in patients with glycogenosis type II (Pompe disease, PD). Since enzyme replacement therapy (ERT) has been introduced ophthalmic examination in the routine follow-up gained a special role in infantile-onset Pompe disease and prolonged survival. Currently a number of cases with ophthalmic disorder as the first sign of PD is known. Histopathological features of glycogen deposits in various eye structures has been described. Current review summarizes PubMed data on ophthalmopathy in PD.

Pompe disease, glycogenosis type II, lysosomal storage disease, infantile-onset Pompe disease, late-onset Pompe disease, α-glucosidase, enzyme replacement therapy, extraocular motility disorder, ophthalmopathy, ptosism strabismus, myopia

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2. Libert J., Martin J.J., Ceuterick C. et al. Ocular ultrastructural study in a fetus with type II glycogenosis. Br J Ophthalmol 1977; 61(7):476–82.

3. Goebel H.H., Kohlschütter A., Pilz H. Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease). Ophthalmologica 1978;176(2):61–8.

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6. Groen W.B., Leen W.G., Vos A.M. et al. Ptosis as a feature of late-onset glycogenosis type II. Neurology 2006;67(12):2261–2.

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8. Yanovitch T.L., Banugaria S.G., Proia A.D. et al. Clinical and histologic ocular findings in Pompe disease. J Pediatr Ophthalmol Strabismus 2010;47(1):34–40.

9. Slingerland N.W., Polling J.R., van Gelder C.M. et al. Ptosis, extraocular motility disorder, and myopia as features of pompe disease. Orbit 2011;30(2):111–3.

10. Chien Y.H., Lee N.C., Tsai Y.J. et al. Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantileonset Pompe disease. Muscle Nerve 2014;50(2):301–2.

11. Ravaglia S., Bini P., Garaghani K.S. et al. Ptosis in Pompe disease: common genetic background in infantile and adult series. J Neuroophthalmol 2010;30(4):389–90.

12. Prakalapakorn S.G., Proia A.D., Yanovitch T.L. et al. Ocular and histologic findings in a series of children with infantile Pompe disease treated with enzyme replacement therapy. J Pediatr Ophthalmol Strabismus 2014;51(6):355–62.

13. Anagnostou E., Kemanetzoglou E., Papadimas G. Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements. Neuromuscul Disord 2014; 24(12):1073–8.

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