Susac’s Syndrome

Susac’s syndrome is an extremely uncommon autoimmune-related condition with an unidentified etiology, and many people who have it do not exhibit the peculiar symptoms listed below. Patients frequently go through a personality transformation and exhibit strange and paranoid behavior. Their speech may be impacted, as in the instance of a female in her late teens who had both speech and hearing abnormalities, and many suffer from constant, excruciating migraines and headaches, some degree of hearing loss, and blurred eyesight. Usually, the issue resolves itself, but it may take up to five years. Subjects can occasionally become muddled.



Small infarctions of cochlear, retinal, and encephalic tissues (SICRET), also known as Susac’s syndrome or retinocochleocerebral vasculopathy, is an uncommon autoimmune disorder that primarily affects young to middle-aged women. Acute or subacute encephalopathy (brain condition), branch retinal artery occlusion (BRAO), and bilateral hearing loss are its three main symptoms. Depending on the regions involved, Susac’s syndrome has been seen in three different forms in affected people. Encephalopathy is the primary clinical finding of one type. In the second form of Susac disease without any brain injury, the main issues seen are branch retinal artery blockage and hearing impairment. In the third kind, individuals initially exhibit encephalopathy before going on to have hearing loss and retinal artery obstruction.


Susac’s syndrome has an unknown specific cause. Microangiopathy, a condition that causes hearing loss, encephalopathy, and retinal artery occlusions, is what causes it to happen, though. It affects the small blood arteries in the brain, eyes, and inner ear. Susac’s syndrome is regarded as an autoimmune disorder in which the immune system cells inadvertently harm the inner lining of microscopic blood vessel walls (endothelium). The retina, brain, and inner ear are primarily supplied with blood by these small blood arteries. Endothelial cell damage causes swelling and blockages in the blood vessels, which prevent oxygen and nutrients from reaching the affected areas.

Signs and Symptoms:

Susac’s syndrome affects different people differently in terms of its specific symptoms, severity, and course of action. Commonly, neither all three of the disease’s hallmarks encephalopathy, branch retinal arterial occlusions, and hearing loss are present at the time of the disease’s inception nor do they necessarily manifest in every patient. Any one of the three primary features may be the only one present when patients are first examined by a doctor, with one or both of the other features emerging only afterward. A “dark spot” or “black area” in the patient’s field of vision may be a symptom of branch retinal artery occlusion (BRAO), and some patients may also describe a “curtain or shade being drawn” over a section of their vision. “Scotoma” is the medical term for these signs and symptoms.

These signs and symptoms are the result of blood flow restriction, which causes injury to the retina. Impulses of nerves from the retina are sent to the cerebral cortex via the optic nerve. The retina is a thin layer of nerve cells that detects light and transforms it into nerve signals. Susac’s syndrome can affect one or both eyes in a person. It is possible to lose vision permanently. BRAOs might manifest early or late in the course of the disease in different people.

The following are some of Susac’s syndrome frequent symptoms.

  • Brain signs.
  • Confusion.
  • Migraine headache.
  • Vomiting.
  • Walking challenges.
  • Dark visual environment.
  • Hearing issues.
  • Vertigo.
  • Tinnitus.
  • Altered thought.
  • Unsteady speaking.
  • Anxiety.
  • Aggression.
  • Slow processing of ideas.
  • A change in behavior.
  • Disruptions to vision.

Diagnosis of Susac’s Syndrome:

To diagnose Susac’s syndrome, a thorough neurological and ophthalmological evaluation is necessary. A neurological assessment may identify indications of brain malfunction as well as its symptoms. Visual field testing should be done during the eye exam to see if the patient’s BRAOs have impaired their vision. After BRAOs, patients frequently still retain 20/20 vision. The back of the eye should be carefully inspected, and the pupils should be dilated. In addition to Gass plaques, BRAOs should be investigated. Small yellow spots, or gassy plaques, can be seen in the arterioles of the retinal arteries. These Gass plaques are locations where the endothelium has already been injured; they are not necessarily connected to the BRAO.

An MRI creates cross-sectional images of organs and body tissues using a magnetic field and radio waves. An MRI often reveals distinctive brain alterations in Susac’s syndrome patients, particularly in the corpus callosum, the structure that joins the right and left hemispheres of the brain. Even in the absence of ocular symptoms, people who have Susac’s syndrome should undergo fluorescein angiography (FA). To identify any hearing loss, Susac’s syndrome sufferers should also get an audiogram. Even if they haven’t experienced any inner ear symptoms, people with Susac’s syndrome suspicion should all have an audiogram.

Treatment for Susac’s Syndrome:

The severity of the clinical symptoms determines the best course of treatment for Susac’s syndrome. Immunosuppressive medications like corticosteroids and intravenous immunoglobulins (IVIG) are the major types of treatment for Susac’s syndrome patients because they reduce the activity of immune system cells that attack the brain, inner ear, and eye microvessels. Dexamethasone can be injected intratympanically in people with hearing loss to help the disease. However, in cases of severe hearing loss, cochlear implants should be utilized to enhance hearing. Additional medications can also be required. Mycophenolate mofetil (Cellcept), azathioprine (Imuran), cyclophosphamide, rituximab, and anti-TNF treatments have also been used to treat Susac’s syndrome patients. The severity of the condition affects the available treatments. The following drugs are frequently used to treat Susac’s syndrome-related symptoms.

  • Azathioprine.
  • Infliximab.
  • Intravenous immunoglobulins (IVIG).
  • Mycophenolate mofetil.
  • Rituximab.
  • Cyclophosphamide.
  • Prednisone.
  • Methotrexate

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