Pompe disease and ophthalmopathy: literature review

Nervno-Myšečnye Bolezni

Tuy Nga Brignol¹  J. Andoni Urtizberea² 

[1] AFM-Téléthon;Praticien hospitalier, MPR, Hôpital Marin de Hendaye;

关键词: 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;   

DOI  :  10.17650/2222-8721-2015-1-19-24

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown