Research progress on retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
10.3760/cma.j.cn113694-20210412-00251
- VernacularTitle:视网膜血管病伴白质脑病和多系统损害的研究进展
- Author:
Fangchao JIANG
1
;
Di ZHONG
;
Guozhong LI
Author Information
1. 哈尔滨医科大学附属第一医院神经内科 150001
- Keywords:
Retinal diseases;
Leukoencephalopathies;
Nephrosis;
TREX1 gene
- From:
Chinese Journal of Neurology
2021;54(8):862-866
- CountryChina
- Language:Chinese
-
Abstract:
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.
