Tomatsu Shizuka, Pitz Susanne, Hampel Ulrike
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60607, USA.
Ophthalmic Clinic, Bürgerhospital, 60318 Frankfurt, Germany.
J Clin Med. 2019 Sep 14;8(9):1467. doi: 10.3390/jcm8091467.
The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality rate had limited the availability of research into certain clinical features, especially ocular manifestations. As the recent successes of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have greatly increased life expectancy in these patients, they have served as a focal point for the transition of research towards improvement of quality of life. Ophthalmological findings in MPS include corneal clouding, glaucoma, optic neuropathies, and retinopathies. While corneal clouding is the most common ocular feature of MPS (especially type I, IVA, and VI), its response to HSCT and ERT is minimal. This review discusses known eye issues in the MPS subtypes, diagnosis of these ocular diseases, current clinical and surgical management, noteworthy research progress, and ultimately presents a direction for future studies.
黏多糖贮积症（MPS）是一组由糖胺聚糖（GAG）蓄积引起的溶酶体贮积病。这些化合物的积累导致了表型各异的综合征，产生多器官损害并具有广泛的全身影响。MPS的发病率较低（约为1/25000活产儿），加上儿童死亡率较高，限制了对某些临床特征，尤其是眼部表现的研究。随着造血干细胞移植（HSCT）和酶替代疗法（ERT）最近取得的成功极大地延长了这些患者的预期寿命，它们已成为研究向改善生活质量转变的焦点。MPS的眼科表现包括角膜混浊、青光眼、视神经病变和视网膜病变。虽然角膜混浊是MPS最常见的眼部特征（尤其是I型、IVA型和VI型），但其对HSCT和ERT的反应很小。本文综述了MPS各亚型中已知的眼部问题、这些眼部疾病的诊断、当前的临床和手术管理、值得注意的研究进展，并最终提出了未来研究的方向。
