Pediatric Department, ASST Grande Ospedale Metropolitano Niguarda, Piazza Ospedale Maggiore 3, 20162, Milan, Italy.
Department of Ophthalmology, Ospedale San Gerardo, Via G. B. Pergolesi 33, 20052, Monza, MB, Italy.
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):125. doi: 10.1186/s13052-018-0559-9.
Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in different parts of the eye. Ocular problems are very common in MPS children, and the cornea, sclera, trabecular meshwork, retina, and optic nerve may all be involved. Early diagnosis is very important to preserve the visual function, and the diagnosis requires experience and different evaluations. Follow-up is mandatory to allow a correct pathway to consequent therapy. This article aims to provide a review of ocular alterations and treatment options in MPS. The ophthalmologist is sometimes the first physician who can suspect a metabolic disease and can help to make the correct diagnosis. It is important to stimulate awareness of MPS among ophthalmologists.
黏多糖贮积症（MPS）是一组罕见的溶酶体贮积症，其特征是在眼睛的不同部位积聚糖胺聚糖（GAG）。眼部问题在 MPS 儿童中非常常见，角膜、巩膜、小梁网、视网膜和视神经都可能受到影响。早期诊断对于保护视力功能非常重要，诊断需要经验和不同的评估。随访是强制性的，以允许后续治疗的正确途径。本文旨在综述 MPS 中的眼部改变和治疗选择。眼科医生有时是第一个能够怀疑代谢疾病并有助于做出正确诊断的医生。重要的是要激发眼科医生对 MPS 的认识。
