Susac syndrome
MONDO:0019390Mondo
Findings
No curated finding names Susac syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.
Definition from the Mondo Disease Ontology (MONDO:0019390), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HeadacheHPOHP:0002315
- Very frequent (80% to 99% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- ConfusionHPOHP:0001289
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Visual lossHPOHP:0000572
- Frequent (30% to 79% of cases)
- Abnormal emotional stateHPOHP:0100851
- Occasional (5% to 29% of cases)
- Abnormality of eye movementHPOHP:0000496
- Occasional (5% to 29% of cases)
- ApathyHPOHP:0000741
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
- DiplopiaHPOHP:0000651
- Occasional (5% to 29% of cases)
Show the remaining 11
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- Gait ataxiaHPOHP:0002066
- Occasional (5% to 29% of cases)
- LethargyHPOHP:0001254
- Occasional (5% to 29% of cases)
- Muscle weaknessHPOHP:0001324
- Occasional (5% to 29% of cases)
- Nausea and vomitingHPOHP:0002017
- Occasional (5% to 29% of cases)
- Personality changesHPOHP:0000751
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: Susac syndrome
- Also called
- RED-MRetinocochleocerebral vasculopathyretinopathy-encephalopathy-deafness associated with microangiopathySICRET syndromesmall infarctions of cochlear, retinal and encephalic tissue