Usher Syndrome
In a nutshell
Usher syndrome is a rare autosomal recessive genetic condition that affects hearing, vision and balance. There are three clinical types: types 1 and 2 are present at birth and are the most common, while type 3 develops symptoms in childhood. Hearing loss ranges from moderate to profound, and vision is progressively affected by retinitis pigmentosa. At least ten genes have been identified that cause the disorder. There is currently no curative treatment; research towards possible genetic therapies is ongoing.
Usher syndrome is a rare autosomal recessive genetic condition that affects hearing, vision and balance.
Types of Usher syndrome
There are three clinical types of Usher syndrome – Type 1, 2 and 3. Type 1 and 2 are the most common. Symptoms Types 1 or 2 are present at birth however individuals affected by type 3 develop symptoms in childhood.
Type one
- Hearing: People with Usher type one are profoundly deaf from birth and have balance problems. Most use sign language as their primary means of communication. The hearing loss often remains stable throughout a person's life and is generally not helped by hearing aids. However, children may benefit from cochlear implants, thereby allowing them to develop speech.
- Vision: Most children with Usher type one usually begin to develop retinitis pigmentosa-related vision problems between the ages of 8-12 years old, with vision problems first noticed at night, followed by increasing difficulty with side (peripheral) vision. Visual problems are progressive.
- Balance: The balance problems mean that children may be late in sitting up and walking.
Type two
- Hearing: Children with Usher two are born with moderate to severe hearing impairment and normal balance. The severity of hearing impairment varies, but many, if not most, children can benefit from hearing aids. Children are likely to use speech to communicate.
- Vision: The visual problems related to retinitis pigmentosa (RP) tend to progress more slowly than in Usher one and also tend to begin later, usually in late teenage years, or may not even begin until the person is in their 30s or 40s. The RP is variable from person to person, so it is impossible to predict how much sight someone might have at any given stage in life.
The person with Usher two is faced with continually adapting to two changing senses and the impact a change in one sense has on their ability to use the other.
Type three
- Hearing: Children born with Usher three have normal hearing. Hearing worsens over time and may progress to profound hearing loss. However, the rate at which hearing is lost can vary between individuals, even within the same family. Children may develop noticeable hearing problems by their teens and usually are using hearing aids by mid to late adulthood.
- Vision: Vision problems usually begin during teenage years, starting with night blindness. The sight problems are more variable and this can mean the central vision is affected earlier. As with Usher two, the onset and progression of RP is variable from person to person.
- Balance: Some people with Usher Type 3 will have near normal balance but some may develop problems later on.
Identified genes
So far at least ten have been identified that cause the disorder. They are:
- Type one Usher syndrome: MY07A, USH1C, CDH23, PCHD15, SANS
- Type two Usher syndrome: USH2A, ADGRV1 (previously called VLGR1), WHRN
- Type three Usher syndrome: USH3A, HARDS
Treatment
There is currently no curative treatment for Usher syndrome. Supportive treatment is directed towards symptoms that have developed. Research towards possible genetic therapies aiming to slow the progression of visual loss associated with RP is ongoing. Some research has suggested that Vitamin A supplementation may be beneficial.
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Last reviewed: August 2026