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Schematic display of the main features of RVCL-S. RVCL-S is a systemic endotheliopathy caused by C-terminal truncating TREX1 mutations. The main features are vascular retinopathy and focal and global neurological deficits. In addition, a wide range of systemic manifestations can occur, most notably liver and kidney disease, anemia, thyroid dysfunction, gastro-intestinal angiodysplasia and Raynaud's phenomenon.
