Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.

ABSTRACT:

Objective

To characterize lesion evolution and neurodegeneration in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) using multimodal MRI.

Methods

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.

Results</

SUBMITTER: Ford AL 

PROVIDER: S-EPMC7682842 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature