Majmudar Ishani P, Ismail Haroon O, Dang Suveera, Gill Manjot K
Department of Ophthalmology, Northwestern University Feinberg School of Medicine Chicago, Illinois, USA.
Am J Ophthalmol Case Rep. 2024 Oct 11;36:102189. doi: 10.1016/j.ajoc.2024.102189. eCollection 2024 Dec.
Case Report and Case Series.
To report a case of retinopathy in a 32-year-old man with Mucopolysaccharidosis type II (MPS II, Hunter syndrome) and highlight the unique multimodal imaging findings that can aid in diagnosing this rare condition.
We present a case of a 32-year-old Hispanic male who presented to the retina clinic following referral from optometry to evaluate for retinitis pigmentosa. He complained of difficulty driving at night and photophobia for 3 years. Visual acuity was 20/25 without correction in the right eye and 20/50 with pinhole correction in the left eye. Fundus examination was notable for bilateral fairly symmetric pigmentary changes along the retinal arcades. OCT revealed blunted foveal contour, perifoveal outer retinal thinning with central sparing in both eyes, and thickening of the external limiting membrane. Fundus autofluorescence showed a central parafoveal hyperautofluorescent ring and diffuse granular hypoautofluorescence in a symmetric bull's eye pattern.
The multimodal imaging findings from this case of a 32-year-old male with ocular manifestations of MPS II are characteristic of this rare condition. Recognizing these findings may aid in the diagnosis and subsequent management of patients with MPS II.
病例报告和病例系列。
报告一例32岁患有II型黏多糖贮积症（MPS II，亨特综合征）男性患者的视网膜病变，并强调有助于诊断这种罕见疾病的独特多模态成像表现。
我们报告一例32岁西班牙裔男性患者，该患者经验光转诊至视网膜诊所，以评估是否患有色素性视网膜炎。他主诉夜间驾驶困难和畏光3年。右眼视力未矫正时为20/25，左眼针孔矫正后为20/50。眼底检查显示沿视网膜血管弓双侧色素改变相当对称。光学相干断层扫描（OCT）显示双眼黄斑轮廓变钝，黄斑周围外层视网膜变薄，中央保留，以及外界膜增厚。眼底自发荧光显示中心凹旁中央高自发荧光环和对称靶心样弥漫性颗粒状低自发荧光。
该例32岁患有MPS II眼部表现男性患者的多模态成像表现是这种罕见疾病的特征。认识到这些表现可能有助于MPS II患者的诊断及后续治疗。
