Association of retinal venous malformations with intracranial vascular malformations

Project: Research project

Project Details

Description

Cerebral vascular malformations (CVMs) can be life threatening, and may lead to hemorrhage, neurologic deficits, seizures, and death. Retinal venous malformations (RVMs), on the other hand, are large abnormal macular veins with a vascular distribution crossing the horizontal raphe and were previously considered to be a benign finding. However, we hypothesize that the shared ontogeny between the cerebral and retinal circulation causes a link between RVMs and CVMs. In support of this, a recent multicenter retrospective study1 demonstrated that of 49 patients with a documented RVM, 12 were found to have an intracranial vascular malformation, much higher than would be expected in the general population with an estimated prevalence 0.3-5.0%2. However, the indication for MRI in the majority (93%) of these patients was not the RVM itself, but rather other symptoms, most commonly headache (67%). We hypothesize that asymptomatic patients found to have RVMs are also at increased risk of CVMs and therefore require screening MRI. In specific objective 1, we will determine the prevalence of CVMs in patients with asymptomatic RVMs. We will identify all patients with a diagnosis of RVM and then determine the prevalence of CVMs using retrospective chart review or prospective MRI with contrast. In specific objective 2, we will determine the prevalence of RVMs in patients with CVMs. We will identify all patients with CVMs, and will determine the prevalence of RVMs using retrospective analysis or prospective eye examination with optical coherence tomography angiography to thoroughly evaluate the retinal vasculature. There are currently no guidelines for asymptomatic patients with RVMs. We expect that the high prevalence of CVMs in asymptomatic patients with RVMs will lead to a recommendation for neuroimaging. Early neuroimaging of these patients, and referral to appropriate subspecialists for management may decrease the risk of CVM hemorrhage and debilitating neurologic consequences. Additionally, thorough investigation of the retinal vasculature in high risk patients for RVMs (patients with CVMs) has the potential to unlock new retinal vasculature findings and may lead to earlier, life saving diagnosis of RVMs.
StatusActive
Effective start/end date7/1/206/30/21

Funding

  • Illinois Society for the Prevention of Blindness (Award 06/04/2020)

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