Research progress on retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations / 中华神经科杂志

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.