Seok Susie, Lyu In Jeong, Park Kyung Ah, Oh Sei Yeul
Center for Clinical Specialty, Department of Ophthalmology, National Cancer Center, Goyang, Republic of Korea.
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Kangnam-gu, Seoul, Republic of Korea.
Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2111-9. doi: 10.1007/s00417-015-2953-y. Epub 2015 Feb 18.
The purpose of this study was to describe the spectral domain optical coherence tomography (SD-OCT) characteristics of patients with retinal manifestations of mucopolysaccharidoses (MPSs) I, II, and IV A.
The research was a prospective, observational study.
Fourteen consecutive patients with variants of MPS and 15 healthy subjects underwent ophthalmic assessments including fundus examinations and SD-OCT.
The fundus examinations revealed that four patients (two MPS I and two MPS II) had pigmented retinopathy in both eyes. In addition, one MPS II patient had cystoid macular edema and two MPS II patients had abnormal disc morphology. SD-OCT revealed thinning of the parafoveal photoreceptor inner segment/outer segment (IS/OS; two MPS I and one MPS II) and perifoveal photoreceptor IS/OS (two MPS I and five MPS II). All MPS I and II patients exhibited thickening of the central foveal external limiting membrane (ELM). Fundus and SD-OCT findings were normal in MPS IV A and healthy subjects. The foveal ELM was significantly thicker in MPS I and II patients than in healthy subjects (P =0 .000 and P =0 .000, respectively). The foveal IS/OS was significantly thinner in MPS I, II, and IV A patients than in healthy subjects (P = 0.000, P = 0.000, and P = 0.030, respectively). The foveal retinal pigment epithelium layer was also thinner in MPS II patients than in healthy subjects (P = 0.007) CONCLUSIONS: In MPS, accumulation of glycosaminoglycans in retinal tissue induced retinal degeneration and pigmentary retinopathy. SD-OCT was a useful tool for detecting retinal pathology, particularly changes in ELM and IS/OS.
本研究旨在描述黏多糖贮积症（MPS）I、II和IV A型患者视网膜表现的频域光学相干断层扫描（SD - OCT）特征。
本研究为前瞻性观察性研究。
14例连续的MPS变异型患者和15名健康受试者接受了眼科评估，包括眼底检查和SD - OCT。
眼底检查显示，4例患者（2例MPS I型和2例MPS II型）双眼出现色素性视网膜病变。此外，1例MPS II型患者有黄斑囊样水肿，2例MPS II型患者有视盘形态异常。SD - OCT显示，黄斑旁光感受器内节/外节（IS/OS；2例MPS I型和1例MPS II型）以及黄斑周围光感受器IS/OS（2例MPS I型和5例MPS II型）变薄。所有MPS I型和II型患者均表现为中央凹外限制膜（ELM）增厚。MPS IV A型患者和健康受试者的眼底及SD - OCT检查结果正常。MPS I型和II型患者的中央凹ELM明显比健康受试者厚（分别为P = 0.000和P = 0.000）。MPS I型、II型和IV A型患者的中央凹IS/OS明显比健康受试者薄（分别为P = 0.000、P = 0.000和P = 0.030）。MPS II型患者的中央凹视网膜色素上皮层也比健康受试者薄（P = 0.007）。结论：在MPS中，糖胺聚糖在视网膜组织中的蓄积导致视网膜变性和色素性视网膜病变。SD - OCT是检测视网膜病变，特别是ELM和IS/OS变化的有用工具。
