Work

Longitudinal association of retinal morphology and white matter progression in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Year: 2025

Type: article

Abstract: Background Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare small vessel disease marked by vision loss and neurocognitive deterioration. We sought to characterize the relatedness of the underlying retinal structure and cerebral disease. Methods Participants with RVCL-S underwent optical coherence tomography (OCT) and brain MRI at baseline and 2 years. Total macular volume (TMV) and central subfield thickness (CST) were generated from OCT images. Neuroimaging metrics of ischemic brain injury included white matter hyperintensity (WMH) volume, white matter microstructure (mean diffusivity), and normalized white matter volume. Associations between retinal and neuroimaging metrics were assessed. Results Eleven RVCL-S participants were included. Reduction in TMV was associated with reduced normalized white matter volume ( β = 0.021, 95% CI [0.006, 0.036], p = 0.0137), increased WMH volume ( β = −11.0, 95% CI [−17.4, −4.0], p = 0.0046), and a near-significant increase in mean diffusivity ( β = −0.017, 95% CI [−0.035, −0.001], p = 0.057). CST was not associated with neuroimaging metrics. Percent change in TMV was associated with percent change in mean diffusivity ( β = −0.61, 95% CI [−1.14, −0.084], p = 0.028). Conclusion A metric of retinal structure, TMV, may provide a marker of cerebral disease severity in RVCL-S. Additional studies are needed to demonstrate whether early measures of TMV predict cerebral disease progression.

Source: Frontiers in Neurology

DOI: 10.3389/fneur.2025.1724411

Authors: Henok Getahun, Rajendra S. Apte, Wilson X. Wang, Vivian Chen, Mae Gordon, Julia Huecker, John P. Atkinson, M. Kathryn Liszewski, Slim Fellah, Serguei V. Astafiev, Jonathan J. Miner, Andria L. Ford

Institutions: Washington University in St. Louis, University of Pennsylvania

Language: English

Topic: Cerebrovascular and genetic disorders

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801

Funders: Research to Prevent Blindness, Washington University in St. Louis, National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of Neurological Disorders and Stroke

Awards: G2493620759, G3740148456, MR measured regional hypoxia as an early biomarker in cerebral small vessel disease, G6753775584, G9000186481

OpenAlex ID: W7109966394

FWCI:

Cites: 23

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