Usher syndrome: information for healthcare professionals 

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 service

Sense provides support to people with Usher syndrome and to parents, carers and healthcare professionals.

Our specialist Sense Usher Service can support you, your family and healthcare professionals, while our information and advice centre offers guidance in finding the right support for you.

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].

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 

  • MYO7A 
  • USH1C  
  • CDH23  
  • PCDH15  
  • USH1G  
  • CIB2  

Usher type 2 

  • USH2A 
  • ADGRV1 
  • WHRN  

Usher type 3 

  • CLRN1 
  • HARS1  

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: 

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

Resources 

1. Government resources 

ClinicalTrials.gov (US) 

GOV.UK 

National Library of Medicine (US) 

National Eye Institute (US) 

2. Other resources 

BMJ

Gene Vision 

Great Ormond St dual sensory clinic 

Medline Plus (US) 

ProQR

Retina UK 

University of Birmingham 

This content was last reviewed in April 2022. We’ll review it again next year.