Usher Syndrome
A group of inherited conditions that affect both vision and hearing. It is the most common genetic cause of combined deafness and blindness, affecting the retina and the inner ear.
Understanding Usher Syndrome
Usher Syndrome is a group of inherited conditions characterised by hearing loss and progressive vision loss caused by retinal degeneration, most commonly associated with Retinitis Pigmentosa (RP). Genetic changes affect proteins essential for the normal function of the retina and inner ear, which may also affect balance.
Usher Syndrome is classified into three main types, each with a different pattern of hearing, vision and balance involvement:
- Type 1: Severe hearing loss or deafness from birth, balance difficulties and early-onset retinal degeneration.
- Type 2: Moderate to severe hearing loss from birth, generally normal balance and vision loss that typically develops later.
- Type 3: Progressive hearing loss, variable onset and progression of vision loss, and possible balance difficulties.
Over time, retinal degeneration can lead to difficulty seeing in low light and loss of peripheral (side) vision, which may progress to affect central vision. The onset, severity and progression of symptoms vary considerably, even among people with the same type of Usher Syndrome.
Advances in genetic research, retinal imaging and emerging therapies are creating new opportunities for diagnosis, treatment and support. Retina International works with people affected by Usher Syndrome, patient organisations, researchers, clinicians and partners worldwide to advance research and ensure lived experience informs progress in retinal health.
3 main types
Commonly classified into Types 1, 2 and 3, with different patterns of hearing, vision and balance involvement.
Autosomal recessive
Usually inherited when a person receives two disease-causing gene variants, one from each parent.
Vision + hearing
The most common genetic cause of combined deafness and blindness, affecting both the retina and inner ear.
How Usher Syndrome can affect vision and hearing
Vision-related symptoms
Because Usher Syndrome commonly involves retinal degeneration, people may experience:
Difficulty seeing in low light
Night blindness is often one of the earliest signs of retinal involvement.
Loss of peripheral vision
Progressive narrowing of the visual field may create tunnel vision.
Difficulty navigating environments
Reduced side vision can affect mobility, especially in unfamiliar surroundings.
Changes in central vision
Some individuals may experience reduced ability to read, recognise faces, or see fine details as the condition progresses.
Hearing-related symptoms
Hearing loss may include:
- Congenital deafness or hearing impairment
- Progressive loss of hearing over time
- Difficulty understanding speech, particularly in noisy environments
Some individuals also experience balance difficulties due to inner ear involvement.
Identifying Usher Syndrome
Hearing assessment
Audiological testing can identify the presence and extent of hearing loss.
Eye examination
An ophthalmologist may assess retinal changes associated with progressive retinal degeneration.
Retinal imaging
Technologies such as optical coherence tomography (OCT) and retinal photography can help evaluate retinal structure and monitor changes.
Visual field testing
This measures peripheral vision and helps track progression.
Electroretinography (ERG)
ERG measures retinal function and can support diagnosis.
Genetic testing
Genetic testing is essential for confirming Usher Syndrome and identifying the specific gene involved.
A genetic diagnosis can help:
- Confirm the type of Usher Syndrome
- Support family planning decisions
- Identify eligibility for clinical trials
- Guide future treatment approaches
Supporting vision, hearing, and independence
Hearing support
Depending on individual needs, support may include:
- Hearing aids
- Cochlear implants
- Communication support
- Sign language services
- Assistive listening technologies
Vision support
Low vision services can help people adapt to changes in sight through:
- Assistive technology
- Magnification tools
- Mobility training
- Environmental adaptations
Rehabilitation and support services
A multidisciplinary approach may involve:
- Ophthalmologists
- Audiologists
- Genetic counsellors
- Low vision specialists
- Rehabilitation professionals
Emerging treatments
There is encouraging progress in research into new treatments for Usher syndrome, a genetic condition that affects both hearing and vision. Although there is currently no cure, several promising approaches are being investigated. These include gene therapy, which aims to replace or correct faulty genes, and RNA-based treatments, such as ultevursen, which is being studied for people with specific USH2A gene mutations (exon 13). Another promising approach is AAVB-081, an experimental gene therapy for Usher syndrome type 1B (USH1B), which aims to deliver a healthy copy of the MYO7A gene to retinal cells. Researchers are also investigating NPI-001 (NACA), an oral antioxidant designed to protect retinal cells and potentially slow vision loss; its Phase 3 clinical trial began in October 2026. In addition, stem-cell-based treatments, such as OpCT-001, are being investigated to explore whether damaged light-sensitive cells in the retina can be replaced. These developments offer hope for the future, but they are still experimental and require further clinical testing to establish their safety and effectiveness. Most current research focuses on preserving or improving vision, while research into treatments for hearing loss is also continuing.
Supporting communication, independence, and participation
Usher Syndrome can affect many aspects of daily life, including communication, education, employment, mobility, and social participation.
Many people living with Usher Syndrome develop strategies and use technology, accessibility tools, and community support to lead independent and fulfilling lives.
Support may include:
- Early access to hearing and vision services
- Accessible education
- Assistive technology
- Mobility and rehabilitation support
- Peer networks
- Patient organisations
- Research participation
The lived experiences of people with Usher Syndrome are essential in shaping healthcare, research priorities, and advocacy.
Useful External Resources
National Eye Institute – Understanding Usher Syndrome
Usher Syndrome Coalition – Current Clinical Trials
Foundation Fighting Blindness – Usher Syndrome Research Advances (September 2026)
References and further reading:
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
Retinal Gene Therapy for Usher Syndrome: Current Developments, Challenges, and Perspectives – PMC
A review of gene, drug and cell-based therapies for Usher syndrome
Advancing the future of Usher Syndrome treatment
Gene therapy
Gene therapy approaches aim to address the underlying genetic cause of disease by delivering functional copies of genes or modifying genetic changes.
Retinal cell therapies
Researchers are investigating whether replacement or regeneration of retinal cells could restore visual function.
Retinal prostheses and vision restoration technologies
Retinal prostheses and vision restoration technologies use innovative devices and technologies to stimulate remaining retinal pathways and support vision.
Natural history studies and registries
Natural history studies and registries collect long-term data to better understand how disease progresses and to guide future treatment development.
Clinical trials
People living with this disease may have opportunities to participate in research studies investigating new treatments and technologies.
Information and community support
Take the Next Step
The importance of combining scientific progress with lived experience is vital. Through collaboration between patients, families, researchers, clinicians, and organisations worldwide, progress continues towards better support, improved treatments, and new possibilities for people affected by Usher Syndrome.
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