Glaucoma in mucopolysaccharidoses

被引:0
作者
Weijing Kong
Jing Zhang
Cheng Lu
Yingxue Ding
Yan Meng
机构
[1] Capital Medical University,Department of Pediatrics, Beijing Friendship Hospital
[2] Chinese PLA General Hospital,Department of Pediatrics
[3] Beijing Hong Jian Medical Device Company,undefined
来源
Orphanet Journal of Rare Diseases | / 16卷
关键词
Mucopolysaccharidoses; Mucopolysaccharidosis; Glaucoma; Glycosaminoglycans; Rare disease; Lysosomal storage disorders;
D O I
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中图分类号
学科分类号
摘要
Mucopolysaccharidoses are a group of lysosomal storage disorders that are caused by deficiency of enzymes involved in glycosaminoglycans degradation. Due to low prevalence and high childhood mortality, researches on mucopolysaccharidoses were mainly focused on the fatal manifestations. With the development of treatments, more and more mucopolysaccharidoses patients were treated by approved therapies, thereby getting prolonged life span and improved quality of life. Abnormal accumulation of glycosaminoglycans in the eye may block trabecular meshwork, thicken sclera and change mechanical behavior of lamina cribrosa, which, by increasing intraocular pressure and damaging optic nerve, could cause glaucoma. Glaucoma was the leading cause of irreversible blindness worldwide, but it was rarely reported in mucopolysaccharidoses patients. Although non-fatal, it seriously affected quality of life. Prevalence of glaucoma in mucopolysaccharidoses patients (ranged from 2.1 to 12.5%) indicated that glaucoma in patients with mucopolysaccharidoses was worthy of attention and further study, thereby improving the quality of life for MPSs patients.
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