Investigation of Biomarkers in Susac Syndrome

• disease specific patterns of pathology on cranial MRI [ Designated as safety issue: No ]
  one-time cranial MRI
• disease specific patterns of pathology in optical coherence tomography [ Designated as safety issue: No ]
  one time optical coherence tomography
• serological biomarkers [ Time Frame: not defined, cross-sectional analysis ] [ Designated as safety issue: No ]

Susac Syndrome is a rare disease and the establishment of the diagnosis is often difficult. The aim of this investigation is to identify relevant biomarkers and to elucidate the pathogenesis of Susac syndrome

Susac Syndrome is a rare disease characterized by encephalopathy, branch retinal artery occlusion and sensorineural deafness. The pathogenesis is not yet clear, an autoimmune endotheliopathy is discussed. Because of the variable and often incomplete clinical presentation, the establishment of the diagnosis is often delayed or even completely missed.

The aim of this study is to identify biomarkers that facilitate the reliable and prompt establishment of the diagnosis. Patients with a definite diagnosis of Susac syndrome and healthy subjects as controls are investigated.

Furthermore, the correlation of serological markers with structural retinal and cerebral changes will contribute to clarification of the pathogenesis of Susac syndrome.

patients with Susac syndrome (male/female; healthy control subjects

• Patients with Susac syndrome
• Matched healthy controls

Inclusion Criteria:

• adult male and female patients with definite Susac syndrome or matching healthy control subjects
• ability to provide informed consent

Exclusion Criteria:

• pregnancy