Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Acta Ophthalmol. 2012 Nov;90(7):595-602. doi: 10.1111/j.1755-3768.2011.02280.x. Epub 2011 Dec 2.
The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in children with severe corneal clouding, hampering visualization of the fundus. Intraocular pressures may be falsely high, even leading to suspicion and unnecessary pressure-lowering treatment. Simple interventions such as the use of prescription glasses or photochromatic glasses can considerably improve quality of life in children with MPS.
黏多糖贮积症（MPS）是一组罕见的溶酶体贮积症，其特征是多种组织和器官中糖胺聚糖的积累。这种积累导致了一系列临床表现，在严重的情况下会导致过早死亡。眼部问题在 MPS 患儿中非常常见，可能涉及角膜、巩膜、小梁网、视网膜、视神经以及后视觉通路。本研究的目的是概述 MPS 中的眼部问题，并为儿科眼科医生提供临床指南，以便早期诊断和管理 MPS 患儿的眼部表现。在严重角膜混浊的患儿中，可能会出现诊断问题，从而阻碍眼底的可视化。眼内压可能会被错误地升高，甚至导致怀疑和不必要的降压治疗。简单的干预措施，如使用处方眼镜或光致变色眼镜，可以显著提高 MPS 患儿的生活质量。
