What is it?
Usher Syndrome is a rare genetic disease that affects both hearing and vision. It can lead to hearing loss and an eye condition called retinitis pigmentosa, which can lead to gradual vision loss over time. People with Usher Syndrome may have issues with balance as it can affect the middle ear.
There are three main types of Usher Syndrome and the effect on hearing, vision, and balance ranges from mild to severe. The different types are linked to different genes leading to variations in symptoms and age of onset.
Symptoms
Type 1 – Early onset: People are usually born with profound hearing loss and may also have balance issues, which can delay sitting or standing up. Vision loss most commonly begins in childhood, starting with difficulty seeing in low light and issues with side vision. Early support with hearing aids, cochlear implants and therapy can be very beneficial.
Therapies for early onset Usher Syndrome include:
- Speech therapy for children with hearing impairments.
- Auditory training for those with cochlear implants or hearing aids.
- Orientation and mobility training to assist in safely and independently navigating the child’s environment with vision loss.
- Occupational therapy to develop strategies for daily living tasks.
Type 2 – Moderate onset: People may be born with moderate to severe hearing loss (usually manageable with hearing aids), and balance is generally normal. Gradual vision changes – like difficulty seeing in dim light often starting in adolescence or adulthood.
Type 3 – Later onset: This is the rarest type. Hearing, vision and balance are all normal at birth, but hearing and vision may decline over time, usually starting in adolescence or adulthood. The progression varies, so early monitoring is helpful.
Causes and risk factors
Usher Syndrome is caused by changes in specific genes that affect both hearing and vision. It’s an inherited genetic disease, which means these changed genes get passed down from parents to children. Usher Syndrome is usually inherited in a ‘recessive’ way, meaning a person needs to inherit two altered copies of a specific gene – one from each parent to have the condition.
Scientists have found 9 different genes that can cause Usher Syndrome. The altered genes disrupt the function of cells in the inner ear (causing hearing loss) and the retina in the eye (causing vision loss). Balance issues may also occur because the inner ear isn’t functioning properly. If someone has just one altered gene, they are a ‘carrier’ and don’t have symptoms but can pass the gene to their children.
If both parents are carriers, each child has:
- A 25% chance of inheriting two altered copies and having Usher Syndrome.
- A 50% chance of being a carrier (no symptoms).
- A 25% chance of inheriting no altered genes and being unaffected.
In summary, Usher Syndrome occurs when someone inherits two copies of the altered gene, one from each parent. The altered gene can affect hearing, vision, and balance.
Genetic counseling can help individuals and families understand the inheritance pattern of Usher Syndrome and the chance of passing it on. A genetic counselor can explain how Usher Syndrome occurs, review family medical histories, and discuss genetic testing options which can help to confirm the diagnosis of Usher Syndrome and identify carriers.
While Usher Syndrome may be challenging, there is hope and support available. Advances in technology, like cochlear implants, hearing aids, and low-vision aids can greatly improve quality of life.
Diagnosis
Spotting Usher Syndrome can be challenging, especially in its early stages, as symptoms develop gradually. Key signs to watch for include:
- Hearing loss: Congenital or progressive, often detected through newborn hearing screenings or later in life.
- Vision problems: Night blindness or difficulty seeing in low light, followed by a narrowing field of vision (tunnel vision).
- Balance issues: Difficulty walking in the dark or delayed motor development in children (specific to certain types).
Diagnosis involves a combination of:
- Hearing Tests: Audiometry or auditory brainstem response (ABR) to assess the severity and type of hearing loss.
- Vision Exams: An eye test including visual acuity, dilated retinal examination, electroretinography (ERG) and visual fields to detect retinal changes consistent with retinitis pigmentosa.
- Balance Assessments: Vestibular function tests for individuals with suspected Type 1 Usher Syndrome.
- Genetic Testing: Identifies mutations in genes associated with Usher Syndrome to confirm the diagnosis and determine the type.
Early recognition and diagnosis are important to accessing treatments, mobility training, and assistive technologies that can improve quality of life.
Management
Management of Usher Syndrome involves a combination of interventions aimed at managing hearing, vision, and balance issues, as well as providing support to enhance quality of life. Vision and hearing may change over time, so early preparation, learning new skills or using adaptive tools can help to make tasks easier and reduce stress later on.
- Hearing aids amplify sound to help individuals with partial hearing loss communicate more easily.
- Cochlear implants are devices for more severe hearing loss that bypass damaged parts of the ear to directly stimulate the hearing nerve, allowing people to perceive sound.
- Speech therapy helps individuals with hearing loss develop or maintain clear speech.
- Auditory training for those with cochlear implants or hearing aids.
- Low vision aids include devices like magnifiers, screen readers, and specialised apps or assistive tools on smartphones that can help you with day to day tasks.
- Counselling. For families affected by Usher Syndrome, counselling can offer emotional support, resources, and guidance on managing the condition.
- Emotional and social support. Adjusting to vision and hearing loss can be stressful, so having a safe space to share experiences is vital. Organisations like the Usher Syndrome Coalition connect individuals with resources and others who understand their journey
- Healthy lifestyle. Regular exercise, a balanced diet, and avoiding smoking can support overall eye and ear health.
- Orientation and mobility training is run by Guide Dogs and teaches people how to safely navigate their surroundings, including using tools like a white cane or guide dog.
- Occupational therapy is also run by Guide Dogs and focuses on adapting routines and environments for better independence.
By embracing the available professional resources and community support, and focusing on abilities rather than limitations, people with Usher Syndrome can continue to live full lives doing the things they enjoy.
For more information
Staying connected to medical professionals and support networks is important when navigating this condition. Please speak to your doctor if you have any symptoms or concerns, and visit the follow sites for more information:
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