EAN 2024 | What is RVCL-S? Introduction to the monogenic small vessel disease

Irene de Boer, MD, Leiden University Medical Center, Leiden, Netherlands, introduces RVCL-S (Retinal Vasculopathy with Cerebral Leukodystrophy and Systemic manifestations), a rare systemic small vessel disease caused by mutations in the TREX1 gene. Patients commonly experience symptoms like vascular retinopathy, cognitive decline, and migraines, along with systemic issues such as liver and kidney disease. Diagnosing RVCL-S can be challenging as its symptoms are often confused with other conditions, so collaboration among physicians and a detailed patient history are essential. This interview took place at the European Academy of Neurology (EAN) Annual Meeting 2024 in Helsinki, Finland.

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