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

•RVCL-S is a monogenetic small vessel disease caused by TREX1 mutations.•RVCL-S should be suspected in middle-aged adults presenting with retinopathy and neurologic deficits.•Besides neuro-ophthalmological features the syndrome involves internal organ dysfunction.•Early genetic testing is recommende...

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Bibliographic Details
Published in:	Cerebral circulation - cognition and behavior Vol. 3; p. 100046
Main Authors:	Wilms, A.E., de Boer, I., Terwindt, G.M.
Format:	Journal Article
Language:	English
Published:	Elsevier B.V 01-01-2022 Elsevier
Subjects:	Cerebral small vessel disease Hereditary Retinopathy RVCL-S cSVD CT OCT pRNFL Retinopathy MRI RVCL-S Hereditary TMV Cerebral small vessel disease
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Summary:	•RVCL-S is a monogenetic small vessel disease caused by TREX1 mutations.•RVCL-S should be suspected in middle-aged adults presenting with retinopathy and neurologic deficits.•Besides neuro-ophthalmological features the syndrome involves internal organ dysfunction.•Early genetic testing is recommended to prevent systemic complications.•RVCL-S serves as a unique hereditary neuro-endothelial model for sporadic cerebral small vessel disease (cSVD) and dementia. 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, cognitive decline and a wide range of systemic manifestations, including Raynaud's phenomenon, anemia and liver and kidney disease. Eventually, RVCL-S leads to premature death. The underlying pathological finding in RVCL-S is a nonatherosclerotic, amyloid-negative angiopathy involving small arteries and capillaries. However, the exact mechanisms by which the truncated TREX1 protein causes angiopathy remains unknown. Timely recognition of this disease is important to slow down and treat complications of the disorder, but also to prevent unnecessary (invasive) diagnostic or therapeutic procedures. As we move forward, translational research combining basic science advances and clinical findings as well as studies focusing on natural history following RVCL-S patients at different disease stages, will be critical to help elucidate RVCL-S pathophysiology. These studies will also provide the tools to identify appropriate biomarkers and therapeutic agent options for RVCL-S patients.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2666-2450 2666-2450
DOI:	10.1016/j.cccb.2022.100046