Manchester Academic Health Science Centre, Manchester Royal Eye Hospital, Manchester, UK.
Division of Pharmacy and Optometry, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
Br J Ophthalmol. 2019 Apr;103(4):504-510. doi: 10.1136/bjophthalmol-2017-311749. Epub 2018 Aug 17.
Mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. Ocular complications (such as corneal clouding, retinopathy and optic neuropathy) are common. Notably, there is a paucity of data on the effect of genotype and systemic treatments (enzyme replacement therapy or haematopoietic stem cell transplantation) on the ocular phenotype in MPS. We prospectively studied the ocular features of patients with MPSI (Hurler/Hurler-Scheie/Scheie), MPSIV (Morquio) and MPSVI (Maroteaux-Lamy), to evaluate the effect of different therapeutic interventions and to correlate the findings with genetic and biomarker data.
Prospective observational cohort study. Study participants underwent detailed ocular examination including visual acuity; assessment of corneal clouding (Iris camera Corneal Opacification Measure score and Pentacam densitometry) and retinal and optic nerve imaging (optical coherence tomography and wide-field fundus imaging). Data on genotype, biomarkers and delivered therapies (type and length of treatment) were also collected for each patient where available.
Overall, 21 patients with MPSI, 4 patients with MPSIV and 3 patients with MPSVI were recruited. Corneal clouding scores were higher in MPSI compared with MPSIV and MPSVI. Retinopathy was evident in patients with MPSI only. Association was observed between corneal clouding and biomarkers in MPSI, MPSIV and MPSVI. However, no clear association was seen between genotype or treatment type and ocular phenotype.
The ocular phenotype in MPS is variable, with corneal clouding occurring in MPSI, MPSIV and MPSVI, and retinopathy in MPSI only. There was an association between corneal clouding and efficacy of systemic treatment as measured by biomarkers.
黏多糖贮积症（MPS）是一组异质性溶酶体贮积症。眼部并发症（如角膜混浊、视网膜病变和视神经病变）较为常见。值得注意的是，关于基因型和系统治疗（酶替代疗法或造血干细胞移植）对 MPS 眼部表型的影响的数据很少。我们前瞻性研究了 MPSI（Hurler/Hurler-Scheie/Scheie）、MPSIV（Morquio）和 MPSVI（Maroteaux-Lamy）患者的眼部特征，以评估不同治疗干预的效果，并将发现与遗传和生物标志物数据相关联。
前瞻性观察队列研究。研究参与者接受了详细的眼部检查，包括视力；评估角膜混浊（虹膜相机角膜混浊测量评分和 Pentacam 密度测定）以及视网膜和视神经成像（光学相干断层扫描和宽视野眼底成像）。还收集了每位患者的基因型、生物标志物和已给予的治疗（治疗类型和治疗时间）的数据，只要有可用数据。
共纳入 21 例 MPSI 患者、4 例 MPSIV 患者和 3 例 MPSVI 患者。MPSI 的角膜混浊评分高于 MPSIV 和 MPSVI。仅在 MPSI 患者中发现视网膜病变。在 MPSI、MPSIV 和 MPSVI 中观察到角膜混浊与生物标志物之间存在关联。然而，基因型或治疗类型与眼部表型之间未观察到明确关联。
MPS 的眼部表型多种多样，角膜混浊发生在 MPSI、MPSIV 和 MPSVI 中，而视网膜病变仅发生在 MPSI 中。角膜混浊与系统治疗的疗效（通过生物标志物测量）之间存在关联。
