Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease
Journal of Internal Medicine2018Vol. 285(3), pp. 317–332
Citations Over TimeTop 10% of 2018 papers
Nadine Pelzer, E.S. Hoogeveen, J. Haan, Rene Bunnik, Charlotte C Poot, Erik W. van Zwet, Akin Inderson, A.J. Fogteloo, Marlies E. J. Reinders, Huub A. M. Middelkoop, Mark C. Kruit, Arn M. J. M. van den Maagdenberg, Michel D. Ferrari, Gisela M. Terwindt
Abstract
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a rare, but likely underdiagnosed, systemic small vessel disease typically starting with vascular retinopathy, followed by multiple internal organ disease, progressive brain dysfunction, and ultimately premature death.
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