3 years ago

Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease

N. Pelzer, E. S. Hoogeveen, J. Haan, R. Bunnik, C. C. Poot, E. W. van Zwet, A. Inderson, A. J. Fogteloo, M. E. J. Reinders, H. A. M. Middelkoop, M. C. Kruit, A. M. J. M. van den Maagdenberg, M. D. Ferrari, G. M. Terwindt



Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL‐S) is a small vessel disease caused by C‐terminal truncating TREX1 mutations. The disease is typically characterized by vascular retinopathy and focal and global brain dysfunction. Systemic manifestations have also been reported but not yet systematically investigated.

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