ObjectiveTo characterize lesion evolution and neurodegeneration in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) using multimodal MRI.MethodsWe 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 FLAIR, T1-post-gadolinium, and diffusion-weighted imaging were delineated and quantified volumetrically.ResultsTwenty individuals with RVCL-S and 26 controls were enrolled. White matter volume and microstructure declined faster in RVCL–S compared to controls. White matter atrophy in RVCL-S was highly linear (ρ = −0.908, p < 0.0001). Normalized OEF was elevated in RVCL-S, and increased with disease duration. Multiple cognitive domains, specifically those measuring working memory and processing speed, were impaired in RVCL-S. Lesion volumes, regardless of subtype, progressed/regressed with high variability as a function of age, while FLAIR lesion burden increased near time-to-death (p < 0.001).ConclusionRVCL-S is a monogenic microvasculopathy predominantly affecting the white matter with regard to atrophy and cognitive impairment. White matter volumes in RVCL-S declined linearly, providing a potential metric against which to test efficacy of future therapies. Progressive elevation of white matter OEF suggests microvascular ischemia may underlie neurodegeneration in RVCL-S.
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