biostudies-literatureFord ALNCATS NIH HHSNIAID NIH HHSNHLBI NIH HHSNIAMS NIH HHSe1918-e1931https://www.ebi.ac.uk/biostudies/studies/S-EPMC7682842biostudies-literatureUnknown95(14)<h4>Objective</h4>To characterize lesion evolution and neurodegeneration in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) using multimodal MRI.<h4>Methods</h4>We prospectively performed MRI and cognitive testing in RVCL-S and healthy control cohorts. Gray and white matter volume and disruption of white matter microstructure were quantified. Asymmetric spin echo acquisition permitted voxel-wise oxygen extraction fraction (OEF) calculation as an in vivo marker of microvascular ischemia. The RVCL-S cohort was included in a longitudinal analysis of lesion subtypes in which hyperintense lesions on fluid-attenuated inversion recovery (FLAIR), T1-postgadolinium, and diffusion-weighted imaging were delineated and quantified volumetrically.<h4>Results</NeurologyLesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.PMC7682842R01 AI143982R01 HL129241UL1 TR002345K08 AR070918UL1 TR000448Balasetti VMiner JJFord ALChin VWHassenstab JBinkley MMAn HFellah SJen JCBodin AMLiszewski MKBogacki MLin DGrand MGAtkinson JPKang PChen YLee JMTaiwo YHourcade DfalseLesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.<h4>Objective</h4>To characterize lesion evolution and neurodegeneration in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) using multimodal MRI.<h4>Methods</h4>We prospectively performed MRI and cognitive testing in RVCL-S and healthy control cohorts. Gray and white matter volume and disruption of white matter microstructure were quantified. Asymmetric spin echo acquisition permitted voxel-wise oxygen extraction fraction (OEF) calculation as an in vivo marker of microvascular ischemia. The RVCL-S cohort was included in a longitudinal analysis of lesion subtypes in which hyperintense lesions on fluid-attenuated inversion recovery (FLAIR), T1-postgadolinium, and diffusion-weighted imaging were delineated and quantified volumetrically.<h4>Results</2020-01-01T00:00:00Z2020 Oct2025-04-04T10:55:28.031Z2021-02-21T06:30:25ZS-EPMC76828423288778410.1212/WNL.0000000000010659