This page gives an overview of Usher syndrome for healthcare professionals.
It covers diagnosis, guidance for giving patients a diagnosis, genetic causes, hearing loss and sight loss management, dual sensory clinics and local authority deafblind guidance.
Sense’s Usher and children’s services
Sense provides support to people with Usher syndrome and to parents, carers and healthcare professionals.
To contact us, you can reach us by phone at 0300 330 9256 or email us at [email protected].
Our Children’s Specialist Services provide further advice and support to families and young people, and can connect you with other families living with Usher. Contact us at [email protected].
Sections on this page:
Diagnosing Usher syndrome
Diagnosis of Usher syndrome requires genetic testing to obtain a molecular diagnosis and inform future management of the condition, according to type.
This can be achieved through a variety of next generation sequencing methods:
- Targeted gene panels (retinal and deafness).
- Whole exome sequencing.
- Whole genome sequencing.
- Targeted exome sequencing.
For more on genetic testing, including next generation sequencing, see gene vision, clinical genetic testing resources.
Giving a patient the diagnosis
When patients and their families have to hear difficult information, how that news is delivered has an impact on how they respond.
This is true with a diagnosis of Usher syndrome.
Based on what people have told us, we recommend the following good practice principles when communicating the diagnosis:
- Prepare the person for a possible diagnosis of Usher.
- Make sure they have a choice about who is present with them to hear the diagnosis.
- Give the patient as much information about Usher syndrome as they need.
- Provide clear, accessible information to take away on the day
- Give the person the opportunity and time to ask questions and talk about their feelings.
- Provide reassurance and tell them where they can get support.
Genetic causes of Usher syndrome
Usher syndrome is a rare genetic condition that affects between 4 and 17 people in 100,000 worldwide.
Usher syndrome is caused by mutations in several different genes:
Usher type 1
Usher type 2
Usher type 3
These genes provide instructions for making proteins involved in normal hearing, balance, and vision.
In the inner ear, the proteins are involved in the development and function of specialised hair cells that help to transmit sound and signals from the inner ear to the brain.
In the retina, the proteins help maintain light-sensing cells called rod photoreceptors for vision in low light, and cone photoreceptors for colour vision and vision in bright light.
For some of the proteins related to Usher syndrome, their exact role in hearing, balance, and vision is unknown.
Most of the gene mutations responsible for Usher syndrome lead to a loss of hair cells in the inner ear, and a gradual loss of rods and cones in the retina, causing hearing loss, sight loss and balance problems.
In some people with Usher syndrome, the genetic cause of the condition has not been identified.
Current research suggests that several additional genes may be associated with this disorder.
Hearing loss management
Usher type 1
Usher type 1 patients are normally offered bilateral cochlear implants within the first two years of life, enabling the development of oral communication and open set speech perception.
Usher types 2 and 3
Patients with Usher types 2 and 3 benefit from hearing aids, but may need cochlear implants with progressive hearing loss.
Given the increasing recognition of Usher syndrome among children, especially type 1, cochlear implants are being fitted much earlier, allowing verbal communication to develop normally.
However, this may not be the case for many older patients, whose hearing loss was not detected earlier in their childhood due to lack of awareness of Usher syndrome.
Most of these patients use sign language to communicate instead. Among those who are also severely visual impaired, who cannot use conventional sign language, hands-on signing is an alternative.
Sight loss management
Management of sight loss in people with Usher syndrome includes:
- Correcting any refractive errors.
- Referral to low vision services.
- Monitoring for associated complications such as cataracts and cystoid macular oedema.
- A healthy, balanced diet that includes fresh fruit and green leafy vegetables.
- Vision aids and assistive technology to improve quality of life.
- UV-protected sunglasses.
- Blue-light screen protectors on mobile devices and computer screens, as a precaution.
Dual sensory clinics
Dual sensory clinics are established in some centres to improve the clinical experience of children with hearing and sight impairment.
Patients can access a multidisciplinary clinic in one visit, reducing the stress of multiple medical appointments.
Dual sensory clinics will promote faster and more accurate diagnosis through extensive genetic testing and detection of visual symptoms at an earlier stage.
You can visit our resources to learn more about Usher syndrome diagnosis, genetic testing, genetics and phenotypes, management, key clinical investigations, gene therapies and research.
Deafblind guidance for local authorities
People with a combined sight and hearing impairment are entitled to a local authority assessment (England and Wales) under the Department of Health’s deafblind guidance.
The assessment may lead to them getting some or all of the following:
- Orientation and mobility training.
- Help to learn new communication methods, such as British Sign Language (BSL).
- One-to-one support, for example a communicator guide, who can help you with everyday tasks, to get around and maintain your independence.
- Hearing aids and vision aids.
- Other assistive technology.
Under this guidance, under Section 7 of the Local Authority Social Services Act 1970 (for children) and section 78 of the Care Act 2014 (for adults), local authorities must:
- Make contact with and keep a record of all deafblind people.
- Ensure assessments of need for care and support are carried out by people with specific training and expertise.
- Provide appropriate services for deafblind people.
- Provide specially trained one-to-one support workers when necessary.
- Provide accessible information for deafblind people.
- Ensure that a director-level member of the local authority senior team has overall responsibility for deafblind services.
Download the full guide, care and support for deafblind children and adults policy guidance.
1. Government resources
- Explore 404,530 research studies in all 50 states and in 220 countries.
- Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B.
- Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Stellar).
- A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B.
National Library of Medicine (US)
- The effect of blue-light blocking spectacle lenses on visual performance, macular health and the sleep-wake cycle: a systematic review of the literature.
National Eye Institute (US)
- NEI Research News (new information about the causes and treatments of vision disorder, including retinitis pigmentosa).
2. Other resources
- Ophthalmology Research: Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome.
- Usher syndrome: for professionals.
- Clinical genetic testing: for professionals (including next generation sequencing).
- Genetics basics and inheritance pattern.
- Gene therapy.
- Nonsense suppression therapy.
- Gene editing.
- RNA therapy.
Great Ormond St dual sensory clinic
Medline Plus (US)
- Research news.
- An investigation into non-viral gene therapy using S/MAR vectors for Usher syndrome First year report (published March 2019).
- An investigation into non-viral gene therapy using S/MAR vectors for Usher syndrome. Summary of second year report (published March 2020).
University of Birmingham
This content was last reviewed in April 2022. We’ll review it again next year.