Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, underrecognized, systemic small vessel disease caused by heterozygous C-terminal truncating TREX1 mutations. The disease is characterized by vascular retinopathy, focal neurological complaints, cog...

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Bibliographic Details
Main Authors: A.E. Wilms, I. de Boer, G.M. Terwindt
Format: Article
Language:English
Published: Elsevier 2022-01-01
Series:Cerebral Circulation - Cognition and Behavior
Subjects:
RVCL-S
Hereditary
Retinopathy
Cerebral small vessel disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2666245022000113

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http://www.sciencedirect.com/science/article/pii/S2666245022000113

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