Cerebroretinal vasculopathy

Cerebroretinal vasculopathy (CRV) is an extremely rare hereditary small vessel disease that primarily affects the blood vessels of the brain and retina. It belongs to a spectrum of conditions now recognized as TREX1-associated vasculopathies, which also includes hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) and hereditary vascular retinopathy (HVR). These conditions are now often grouped under the umbrella term "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" (RVCL or RVCL-S). The disease is caused by mutations in the TREX1 gene, which encodes a DNA exonuclease involved in DNA degradation and immune regulation. Clinically, cerebroretinal vasculopathy manifests with progressive visual loss due to retinal vasculopathy, including retinal capillary obliteration, microaneurysms, and telangiectasias. Neurological involvement includes progressive white matter lesions (leukoencephalopathy), stroke-like episodes, cognitive decline, and focal neurological deficits. Some patients may also develop renal dysfunction, Raynaud phenomenon, migraine-like headaches, and liver abnormalities. Symptoms typically begin in adulthood, often between the third and fifth decades of life, and the disease follows a progressive course. There is currently no cure or disease-modifying treatment for cerebroretinal vasculopathy. Management is supportive and symptomatic, focusing on monitoring and addressing visual, neurological, and systemic complications. Anti-VEGF therapy may be considered for retinal manifestations, and standard stroke prevention strategies may be employed. Research into the underlying pathophysiology involving TREX1-mediated innate immune dysregulation is ongoing, with the hope of identifying targeted therapeutic approaches in the future.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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