What is Usher Syndrome?
What is Usher Syndrome?
Usher syndrome is a rare genetic condition affecting hearing, vision, and sometimes balance. It is the leading cause of combined deafness and blindness and is categorized into three main types (Type 1, Type 2, and Type 3) based on symptoms and the progression of hearing, vision, and balance issues.
Usher syndrome is the most common genetic cause of combined deafness and blindness.
Prevalence & Genetics
- Global prevalence: Estimated between 400,000 to 700,000 people worldwide.
- Carrier frequency: Up to 1 in 150 people carry a mutation in the USH2A gene—the most common cause of Usher syndrome.
- Inheritance: Usher syndrome is autosomal recessive, meaning both parents must carry a mutation for a child to be affected.
400k+
People worldwide
have Usher Syndrome
25k+
People in the U.S.
have Usher Syndrome
0
Approved treatments
or therapies currently exist
for Usher Syndrome
Types of Usher Syndrome
Three types, different journeys.
Type I
- congenital/severe hearing loss (present at birth) and vestibular problems;
- retinitis pigmentosa (RP) usually begins in childhood (approx. age 5–15).
Type II
- moderate to severe hearing loss at birth (usually non-progressive),
- RP typically begins in adolescence to early adulthood (approx. age 12–20).
Type III
- hearing often normal at birth but progressive hearing loss and variable vestibular symptoms;
- RP and hearing loss onset are variable, often adolescence to adulthood.
- Type III is rarer overall but more common in some populations (e.g., Finnish).
Vision Loss Progression in Patients with Usher Syndrome
