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Updated: Jul 19, 2026
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Longitudinal In Vivo Imaging of the Cerebrovasculature: Relevance to CNS Diseases
Published on: December 6, 2016
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Multimodal Structural and Functional Characterization of Retinal Vasculopathy with Cerebral Leukoencephalopathy
Wilson X Wang1, Aaditya V Shah1, Brent Bruck1
1John F. Hardesty, MD, Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri.
Ophthalmology. Retina
|May 16, 2024
Summary
Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) causes significant retinal abnormalities, including capillary nonperfusion and leakage. This study quanties these effects to aid RVCL diagnosis and treatment development.
Area of Science:
- Ophthalmology
- Neuro-ophthalmology
- Medical Imaging
Background:
- Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) is a rare genetic disorder.
- Understanding its impact on the neurosensory retina is crucial for patient management.
Purpose of the Study:
- To quantify the structural and functional retinal changes in patients with RVCL.
- To characterize the phenotypic spectrum of RVCL in the retina.
Main Methods:
- Cross-sectional descriptive study of 9 RVCL patients (18 eyes).
- Comprehensive ophthalmological evaluations including OCT, OCT angiography (OCTA), ultrawidefield imaging, and fluorescein angiography (FA).
- Assessment of visual acuity, retinal thickness, foveal avascular zone (FAZ), dark adaptation, and electroretinography (ERG).
Main Results:
- Significant capillary nonperfusion (16/18 eyes) and vascular leakage (5/18 eyes) observed on FA.
- Mild cone response impairment on ERG in 4 eyes.
- Varied visual acuity (20/15-20/70) and retinal thickness noted.
Conclusions:
- RVCL presents a distinct retinal phenotype with widespread vascular abnormalities.
- Findings can aid in RVCL diagnosis, disease monitoring, and therapeutic development.
- Further research into RVCL pathophysiology is warranted.
