title: Update on Susac syndrome: new insights in brain and retinal imaging and treatment options.
abstract: Susac syndrome (SuS) is a rare endotheliopathy of the brain, the retina, and the inner ear. The underlying pathophysiology is likely an autoimmune mediated occlusion of microvessels resulting in variable degrees of central nervous system (CNS) dysfunction, visual disturbances, and hearing loss. The disease manifests either with a monophasic or polycyclic course. Patients suffering from SuS are frequently misdiagnosed as having inflammatory demyelinating CNS disease, particularly multiple sclerosis because of some overlap in the clinical presentation and the paraclinical findings. Since appropriate treatment of SuS is crucial for the prognosis, a timely and sound establishment of the diagnosis is important. Here, we summarize currently available information on the clinical presentation and diagnostic procedures in SuS. In particular, we discuss the added value of advanced techniques of brain and retinal imaging such as ultrahigh field magnetic resonance imaging and optical coherence tomography in SuS with respect to its differential diagnosis and pathophysiology. Since evidence-based treatment standards will not be available in the near future, we share some experiences in terms of treatment options. Finally, we briefly outline future areas of research in SuS.
authors.affiliation: NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Jan
authors.initials: J
authors.lastname: Dörr
authors.affiliation: Department of Neurology, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany.
authors.forename: Marius
authors.initials: M
authors.lastname: Ringelstein
authors.affiliation: Department of Neurology, University of Münster, Münster, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Duning
authors.affiliation: Department of Neurology, University of Münster, Münster, Germany.
authors.forename: Ilka
authors.initials: I
authors.lastname: Kleffner
mesh_terms: D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D012160:Retina / Q000473:pathology*; D055955:Susac Syndrome / Q000175:diagnosis*; D041623:Tomography, Optical Coherence
keywords: Antiendothelial cell antibodies; Susac syndrome; branch retinal artery occlusion; encephalopathy; endotheliopathy; hearing loss; optical coherence tomography; treatment