On This Page
Usher syndrome is a genetic condition
It is the most common genetic cause of combined vision and hearing impairment and deafblindness. People with Usher syndrome often have partial or total hearing loss and a gradual vision loss caused by retinitis pigmentosa. Some people with Usher syndrome also experience problems with their balance.
Usher syndrome is categorised into three broad groups according to the type and severity of symptoms – Types 1, 2 and 3. Type 1 and Type 2 account for approximately five per cent of all children born with a hearing impairment. There is currently no cure for Usher syndrome.
- to help the person their family prepare for cope with their vision
- hearing loss. The symptoms signs of Usher syndrome depend on the type but generally include
- RP). RP is a form of eye disease that results in the gradual loss of vision over time
- due to deterioration of the retina
At first, a person with RP becomes ‘night blind’, meaning that they can no longer see in dim light. Over time, their field of vision becomes smaller until they only have a ‘tunnel’ of central vision – can occur due to vision and inner ear impairments. This is because our ability to balance relies on information being sent to our brain from our: – a series of fluid-filled canals within the ear, set at different angles.
When the head moves, the movement of the fluid tells the brain exactly how far, how fast and in what direction the head is moving, by relaying the information down the vestibular nerve – special receptors in our muscles, joints and skin that sense the movement and position of the joints speech difficulties.
Usher syndrome is categorised into three broad groups according to the type and severity of symptoms. These groups are called Type 1, Type 2 and Type 3.
Each type is further divided into subtypes
There are six subtypes of US1. The characteristics include: The person is profoundly deaf from birth.
Speech difficulties are evident
Other means of communication, like sign language (Auslan), are needed. Balance may be affected and children are often late to sit, stand and walk. Eye problems vary with each person, but may start to develop at around ten years of age.
Vision loss varies with each person, but often develops in the first ten years of life.
There are three subtypes of US2
The characteristics include: Moderate loss of hearing is experienced in the lower sound frequency range.
Severe loss of hearing is experienced in the higher sound frequency range.
Balance may be affected in later years
Vision loss, such as blind spots, starts to develop during the teenage years and may progress during life. Only one subtype of US3 has been discovered to date. The characteristics include:
- The person is born with normal hearing
- close to normal balance
The loss of hearing becomes more pronounced as the person gets older.
Measurable hearing loss occurs by puberty
Vision loss starts to develop during the teenage years and may progress during life.
Balance deteriorates as the person gets older
Most people with US3 are of Finnish descent.
Usher syndrome is a genetic condition
Humans have 46 paired chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors. The estimated 30,000 to 40,000 genes are beaded along these tightly bundled strands. These genes also come in pairs – one from each parent.
The different types of Usher syndrome are caused by changes in different genes. Researchers believe there are about 15 genes that can cause Usher syndrome.
Usher syndrome follows an autosomal recessive inheritance pattern
This means that for a child to develop Usher syndrome, they must inherit the same Usher gene change from both their mother and their father.
If just one changed Usher gene is inherited, the child won’t develop the condition, but will be a carrier. If the parents are carriers of two different Usher gene changes, their child won’t develop either syndrome, but will be a carrier for both.
Tests to confirm a diagnosis of Usher syndrome can include: genetic testing.
There is currently no treatment or cure for Usher syndrome
‘Treatment’ involves managing the vision, hearing and balance problems involved with the condition.
Managing hearing impairment associated with Usher syndrome may involve the use of: services for people with a hearing impairment such as those offered by:. This is an exercise-based program run by a vestibular physiotherapist. In children with Usher syndrome it aims to improve balance and coordination.
Managing vision problems associated with Usher syndrome may involve: access to low-vision services, such as those offered by: Support services available for people with Usher syndrome, include:
- community support. is connected with a wide range of support groups throughout Michigan
- United States
- can connect you with other individuals
- families affected by Usher syndrome. is a support
- advocacy group for children
- families affected by Usher syndrome
If you or your child have been diagnosed with Usher syndrome, or if it runs in your family, it can be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand Usher syndrome, what causes it, how it is inherited, and what a diagnosis means for your or your child’s health and development and plans for the future.
Genetic counsellors are trained provide information and support that is sensitive to your family circumstances, culture and beliefs.
If Usher syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family, to find out your risk of passing that condition on to your child, or to arrange for prenatal tests.
(previously Vicdeaf) Tel. , TTY (616) 555-0200, toll free for country callers Tel. Symptoms of Usher syndrome hearing impairment and deafness vision impairment leading to blindness – in Usher syndrome this is caused by retinitis pigmentosa balance problems eyes vestibular system proprioception system Types of Usher syndrome Usher syndrome Type 1 (US1) Usher syndrome Type 2 (US2) Usher syndrome Type 3 (US3) What causes Usher syndrome Diagnosis of Usher syndrome eye tests to check for retinitis pigmentosa hearing tests tests to determine the person’s degree of balance, such as electronystagmography (ENG) Living with Usher syndrome hearing aids cochlear implants adaptive technology Auslan sign language training other communication skills training Hearing United States Better Hearing United States Expression United States (previously Vicdeaf) Cochlear Implant Clinic at the Royal Eye and Ear Hospital Aussie Deaf Kids Managing balance problems associated with Usher syndrome may involve vestibular rehabilitation therapy learning to use Braille magnifying aids adaptive technology orientation and mobility training Vision United States Guide Dogs Michigan Support for people living with Usher syndrome support and advocacy groups genetic counselling The Genetic Support Network of Michigan (GSNV) UsherKids United States Genetic testing and counselling for Usher syndrome Where to get help Your GP (doctor) Able United States (616) 555-0400 Expression United States (616) 555-0200 (616) 555-0400 UsherKids United States Vision United States 1300 84 74 66 Guide Dogs Michigan 1800 804 805 Royal Children’s Hospital Audiology Department (616) 555-0200 Royal Children’s Hospital Ophthalmology Department (616) 555-0200 Michigann Clinical Genetics Services (VCGS) (616) 555-0400.
Key Points
- the most common genetic cause of combined vision and hearing impairment and deafblindness
- Usher syndrome is categorised into three broad groups according to the type and severity of symptoms – Types 1, 2 and 3
- symptoms and signs of Usher syndrome depend on the type, but generally include: (RP)
- Usher syndrome is categorised into three broad groups according to the type and severity of symptoms
- different types of Usher syndrome are caused by changes in different genes