Mack Heather G, Symons R C Andrew, de Jong Gerard
Department of Surgery (Ophthalmology), University of Melbourne, Grattan St, Parkville, Victoria 3052, Australia.
Melbourne Health, 300 Grattan St, Parkville, Victoria 3052, Australia.
Am J Ophthalmol Case Rep. 2017 Oct 4;9:1-6. doi: 10.1016/j.ajoc.2017.10.006. eCollection 2018 Mar.
To report retinal findings in two patients with mucopolysaccharidosis type I (MPS I) receiving human recombinant alpha-l-iduronidase (Laronidase) as enzyme replacement therapy.
Patient 1 had visual acuity 20/20 right eye, 20/25 left eye and unremarkable anterior segment and retinal examination. Optical coherence tomography (OCT) scanning demonstrated parafoveal thinning and subfoveal hyperreflectant material. Patient 2 had visual acuity 20/20 both eyes, with dense nuclear cataract both eyes. Retinal examination demonstrated bull's eye maculopathy both eyes. OCT scanning confirmed parafoveal atrophy and demonstrated similar appearing subfoveal hyperreflectant material, more prominent than in case 1.
These two patients with MPS I receiving Laronidase treatment have developed bull's eye maculopathy changes and subfoveal deposition of hyperreflectant material despite excellent compliance and good tolerance of the standard dose of enzyme therapy for this disorder. Further studies are required to determine the nature of the material, the incidence and the effect of enzyme replacement therapy on these findings in patients with MPS I.
报告两名接受重组人α-L-艾杜糖醛酸酶（拉罗尼酶）进行酶替代治疗的黏多糖贮积症I型（MPS I）患者的视网膜检查结果。
患者1右眼视力20/20，左眼视力20/25，眼前节及视网膜检查未见明显异常。光学相干断层扫描（OCT）显示黄斑旁变薄及黄斑下高反射物质。患者2双眼视力均为20/20，双眼患有致密核性白内障。视网膜检查显示双眼靶心样黄斑病变。OCT扫描证实黄斑旁萎缩，并显示出类似的黄斑下高反射物质，比病例1更明显。
这两名接受拉罗尼酶治疗的MPS I患者，尽管对该疾病的标准剂量酶疗法依从性良好且耐受性佳，但仍出现了靶心样黄斑病变改变及黄斑下高反射物质沉积。需要进一步研究以确定该物质的性质、发病率以及酶替代疗法对MPS I患者这些表现的影响。
