Usher syndrome is an inherited disorder which impacts sight and hearing. This happens due to mutations in specific genes that disrupt how hearing and vision develop during fetal development. It can deteriorate sight and hearing over time and may affect your balance.
Symptoms of Usher syndrome are often present at birth or develop during childhood. Although rare, people with this condition can also develop symptoms as adults.
There are three types of Usher syndrome, and each type will impact people differently depending on the severity. There is currently no cure for Usher syndrome so treatment usually focuses on managing symptoms. However, finding suitable treatments early on can help people with the condition make the most of their sight and hearing.
Support for people with Usher syndrome include:
- Cochlear implants
- Hearing aids
- Hearing or auditory training
- Low vision support
- Support for changing communication needs
- Braille training
- Speech, physical and occupational therapy
- Orientation and mobility training
- Counselling
- Early intervention services
- Ongoing support from paediatricians and medical specialists
The different types of Usher Syndrome are:
Type 1
- In this form of Usher syndrome, hearing loss and balance problems are present from birth. If a baby has this type, they will experience severe or complete hearing loss. They’ll also have balance difficulties, which may delay their ability to start walking. As they grow older, they could develop vision problems, beginning with night vision loss that gradually worsens over time.
Type 2
- Babies with Usher syndrome Type 2 are born with moderate to severe hearing loss. However, they don’t experience balance problems that could delay when they start walking. During their teenage years, they may begin to develop problems with their vision, which progressively worsen with age.
Type 3
- This type of Usher syndrome is quite rare. People with Usher syndrome type 3 are born with normal hearing and vision. However, they start to experience hearing loss in late childhood and vision loss in early to mid-adulthood. Additionally, about half of those with Usher syndrome type 3 also develop balance issues.
Atypical
- Some people are diagnosed with having Atypical Usher Syndrome. This is when a person has a range of symptoms that do not match solely with either type 1, 2 or 3.
Is Usher syndrome common?
No, it is not common and affects between 3 to 6 out of every 100,000 people. It can be inherited from parents who don’t show symptoms. However, if both parents carry a harmful mutation in the same gene, there is a 1 in 4 chance with each pregnancy that their child will have Usher syndrome.
What are the symptoms of Usher syndrome?
The symptoms of Usher syndrome vary and progress over time, depending on the specific type. Common symptoms include:
- Hearing loss: Some children with Usher syndrome are born deaf or with severe hearing impairment, while others may experience moderate hearing loss later in life.
- Vision loss: Vision loss in children with Usher syndrome is caused by a condition called retinitis pigmentosa (RP). The first sign of RP is difficulty seeing in low light, known as night blindness. As the condition progresses, tunnel vision develops, leading to peripheral (side) vision loss, and in some cases, it may eventually result in blindness.
- Balance problems: Children with Type 1 Usher syndrome may have trouble maintaining balance, which can delay their ability to learn how to walk.
How is Usher syndrome diagnosed?
Diagnosis varies depending on the specific type of Usher syndrome. For instance, if routine newborn hearing screenings reveal hearing loss in your baby, further tests will be conducted to confirm this. A healthcare provider may suggest genetic counselling or order genetic tests to identify the mutations responsible for Usher syndrome.
If your child shows signs of hearing or vision problems, their paediatrician might refer you to specialists who will carry out various tests, including:
- Hearing tests: An ear, nose, and throat specialist (ENT) and an audiologist will assess your child’s hearing. They will use tests to evaluate the ability to hear different sounds and frequencies and examine the ears.
- Vision tests: An ophthalmologist will assess your child’s vision, looking for retinal damage typical of retinitis pigmentosa. They may also conduct tests to measure peripheral vision and analyse visual symptoms that could contribute to balance issues.
What is the outlook for Usher syndrome?
Generally, the symptoms of Usher syndrome tend to progress over time. In severe cases, it can result in both deafness and blindness, while people with milder forms might only face moderate hearing and vision loss. Babies born with Usher syndrome Type 1 may also have balance difficulties.
Sight, hearing, and balance are the key senses that help us interact with our environment. Although there is no cure for Usher syndrome, various treatments and support services such as Deafblind UK can help to maximise hearing and vision capabilities. Each person’s experience with Usher syndrome can differ, so it’s important to consult your care team to understand what to expect in your specific situation.
If you or someone you know is affected by Usher syndrome Deafblind UK’s specialist Usher team can help with practical and emotional support. Please contact our helpline team to discuss any concerns, ask questions or seek emotional and practical support.
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To find out more about how we are expanding our services for people impacted by Usher syndrome, including those who have previously been supported by Sense click here.