黏多糖贮积症眼部并发症的诊疗进展

Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis

黏多糖贮积症是一组由于患者溶酶体内缺乏代谢黏多糖的酶而导致大量黏多糖沉积于细胞内的罕见病,可造成眼部和各器官的并发症,眼科并发症主要有角膜混浊、青光眼、屈光不正、斜视和脉络膜视网膜病变等。本文回顾了近年相关文献,对该病眼部并发症的发病机制、临床表现,以及针对性的眼科检查和治疗手段进行综述,以期为早期诊断和治疗黏多糖贮积症眼部并发症提供借鉴。

Mucopolysaccharidosis is a series of rare diseases where a lack of an enzyme affecting mucopolysaccharides metabolism in the patients'lysosome induces the intracellular deposition of the mucopolysaccharides,and causes ocular and organ-related complications.Ocular complications included corneal opacity,glaucoma,ametropia,strabismus,and chorioretinopathy.This review summarizes the mechanisms,clinical manifestations,specific ophthalmological examinations,and treatments for offering the ophthalmological knowledge to diagnose and begin treatment earlier.