Retinocochleocerebral vasculopathy
Evidence: Unconfirmed
Names
Susac syndrome
Susac’s syndrome
Retinocochleocerebral vasculopathy
RED-M (retinopathy-encephalopathy-deafness associated microangiopathy)
SICRET (small infarctions of cochlear, retinal and encephalic tissue)
Description
Susac’s syndrome affects three parts of the body: the brain, the retina of the eye, and the inner ear. The cause is uncertain, but the disease is believed to be autoimmune. Swelling in the lining of the blood vessels in these three areas blocks and decreases blood flow, which results in impaired brain function and vision/ hearing loss. Symptoms are typically unstable as the disease progresses, and patients often experience disturbance in only 2 of the 3 areas at any given time.
The severity of cases may vary, with mild cases resolving in under a year and severe cases having longer duration and causing irreparable damage. During the course of the disease, some patients may experience symptoms in a flare-remission pattern, while others are consistently symptomatic until time of recovery. Treatment is available to prevent permanent damage, and most patients under medical care can expect to experience complete or near complete recovery.
Patient Groups
Facebook: Susac Syndrome Support Group
Creaky Joints
Bloggers
None found.
Prevalence
US Cases: unknown Over 300 cases worldwide have been reported worldwide [Dörr 2013]. ARI has arbitrarily decided that about 50 of those cases could be in the US.
Typical Age of onset
20 to 40 years of age
Source: Rennenbohm 2018
Symptoms
Susac’s syndrome is often misdiagnosed as multiple sclerosis (MS), acute disseminated encephalomyelitis (ADEM) or central nervous system vasculitis
Recurrent headaches (migraine-like headaches)
Difficulty walking
Slurred speech
Memory loss
Confusion
Difficulty concentrating
Personality changes
Psychiatric dysfunction (depression, psychosis, aggression, withdrawal, anxiety)
Muscle pain
Dark spots in vision
Loss of peripheral vision
Hearing loss
Ringing in ears (tinnitus)
Dizziness