CRB1相关视网膜营养不良中的视网膜毛细血管炎。
Retinal capillaritis in a CRB1-associated retinal dystrophy.
作者信息
Murro Vittoria, Mucciolo Dario Pasquale, Sodi Andrea, Vannozzi Lorenzo, De Libero Cinzia, Simonini Gabriele, Rizzo Stanislao
机构信息
a Department of Translational Surgery and Medicine , Eye Clinic, University of Florence , Florence , Italy.
b Ophthalmology Unit, Department of Pediatrics , Anna Meyer Children's University Hospital , Florence , Italy.
出版信息
Ophthalmic Genet. 2017 Dec;38(6):555-558. doi: 10.1080/13816810.2017.1281966. Epub 2017 Jan 27.
PURPOSE
To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).
METHODS
A case report.
RESULTS
An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.
CONCLUSIONS
Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.
目的
报告一例以葡萄膜炎、视网膜毛细血管炎和黄斑囊样水肿（CME）为特征的与CRB1相关的视网膜营养不良病例。
方法
病例报告。
结果
一名8岁男孩被诊断为中间葡萄膜炎并接受了皮质类固醇治疗。随后他被诊断为视网膜营养不良，并发现有两个CRB1突变。
结论
视网膜毛细血管炎、葡萄膜炎和CME可能是我们这位年轻患者CRB1视网膜营养不良的炎症特征。
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