Yanovitch Tammy L, Banugaria Suhrad G, Proia Alan D, Kishnani Priya S
Duke Eye Center, Duke University, Durham, North Carolina, USA.
J Pediatr Ophthalmol Strabismus. 2010 Jan-Feb;47(1):34-40. doi: 10.3928/01913913-20100106-08. Epub 2010 Jan 21.
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.
关于庞贝病患者眼部表现的信息有限。
本研究通过系统的文献综述总结了这些信息；报告了一名接受酶替代疗法的已故庞贝病婴儿和一名已故晚发型庞贝病成人的眼部组织学发现；并指出了接受酶替代疗法的婴儿型庞贝病患儿出现上睑下垂的新观察结果。
发现了6篇关于庞贝病眼部超微结构 - 组织病理学表现的文章。先前报道的临床眼部表现包括斜视和上睑下垂。组织学上可见糖原积累和空泡性肌病。
基于这些临床和组织学报告，庞贝病患者眼部异常（如上睑下垂和斜视）的发生率可能增加，因此应接受眼科检查。
