视网膜血管病伴白质脑病和多系统损害的研究进展  

Research progress on retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

作　　者：姜方超 钟镝[1] 李国忠[1] Jiang Fangchao;Zhong Di;Li Guozhong(Department of Neurology,the First Affiliated Hospital of Harbin Medical University,Harbin 150001,China)

机构地区：[1]哈尔滨医科大学附属第一医院神经内科,150001

出　　处：《中华神经科杂志》2021年第8期862-866,共5页Chinese Journal of Neurology

摘　　要：视网膜血管病伴白质脑病和多系统损害是一种罕见的遗传性脑小血管病,临床表现以早发的视力障碍、肝肾功能异常和神经系统症状为特征,影像学检查常被误诊为肿瘤或瘤样脱髓鞘病变而进行有创检查。早期正确识别对优化治疗策略、综合管理至关重要。文中对近年来视网膜血管病伴白质脑病和多系统损害的相关研究进展进行综述,旨在提高临床医师对该病的诊断水平,以指导治疗及明确下一步的研究方向。Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations(RVCL-S)is a rare hereditary cerebrovascular disease.The clinical presentations are characterized by early-onset visual impairment,liver and kidney dysfunction and neurological symptoms.Imaging examinations are often misdiagnosed as neoplasms or tumefactive multiple sclerosis for invasive examination.Early and correct identification is essential for optimizing treatment strategies and comprehensive management.This review is to improve the understanding of RVCL-S,which may help to reach more accurate diagnosis and better treatment,and improve further research.

关 键 词：视网膜疾病 脑白质病 肾病 TREX1基因 

分 类 号：R774.1[医药卫生—眼科] R743[医药卫生—临床医学]