What is Usher syndrome?
A ‘syndrome’ refers to a disease or disorder that is a combination of symptoms, as such, Usher syndrome is characterised by sensorineural hearing loss and retinitis pigmentosa (RP).
Sensorineural hearing loss refers to hearing damage caused by damage to the inner workingof the ear. In the case of Usher syndrome, it is congenital meaning it is present frobirth.
Retinitis pigmentosa (RP) is a genetic disease that makes it hard to see at night and results in the loss of peripheral (side) vision.
Usher syndrome is present from birth, but the severity of hearing and sight loss it causes will vary depending on how the condition progresses. Usher syndrome is categorised into three types.
The most severe form of Usher syndrome, Type 1 refers to children who are profoundly deaf at birth and form whom hearing aids will not help. In Type 1 cases the child will need to learn sign language or, if possible, speech before their vision begins to deteriorate.
Typically, vision loss will have started before they are 10 and can progress to full blindness.
These children are also likely to have severe problems with balance, making it harder to learn to sit-up unaided, crawl and walk.
Children with Type 2 Usher syndrome will be born with hearing loss but it most cases it can be helped with hearing aids meaning they can generally learn to speak.
Likewise, Type 2 differs in severity from Type 1 regarding vision problems too, with onset of RP not until they become teenagers. Balance does not tend to be affected either.
Unlike Type 2, children with Type 3 Usher syndrome can develop problems with their balance. Deterioration in sight and hearing is likely to be slower than the other types but this tends to vary person to person, even within families. Generally someone with Type 3 will require hearing aids during adulthood and their eyesight will start to fail from their late teens/early 20s.
There are also people who do not fit strictly into these categories who have Atypical Ushers
Usher Syndrome Symptoms
There are three types of Usher syndrome – see above – each varies in the severity of the symptoms and speed at which they progress but will revolve around:
Hearing loss – from total loss to manageable hearing loss with hearing aids
Vision loss – from peripheral and night vision loss to full loss of sight
Balance problems – associated with damage to the inner ears and varying in severity
Speech difficulties – associated with the level of hearing loss and progression of the disease
Usher Syndrome Treatment
There is no cure for Usher syndrome, but research continues into the disease including the use of Vitamin A to fight retinitis pigmentosa.
Treatment therefore focuses on mitigating the effects of hearing and vision loss to help the patient lead as normal a life as possible. This may include:
• hearing aids/cochlear implants
• assisted listening and vision devices
• learning sign language, lip-reading and how to read braille.
Diagnosing Usher Syndrome
Diagnosis of Usher syndrome involves testing hearing, balance and eyes – particularly the retina and peripheral vision.
Because it is best to have an early diagnosis of Usher syndrome, genetic testing is also available in families with a history of Usher syndrome to detect the disease before anysymptoms develop. This is particularly important for young children so they can be put on a pathway to manage future sight and hearing loss.
Causes of Usher Syndrome
Usher syndrome is a genetic condition meaning it is passed from both parents who have faulty genes responsible for the disease. A child will only develop Usher syndrome if it inherits mutated genes from both its parents, there is a one in four chance of this happening if both parents are carriers.
This means that there could be many people carrying the mutated gene for Usher syndrome but for whom it will not develop and whose vision and hearing is not affected.
The mutated gene combination responsible for Usher syndrome causes the gradual loss of hair cells in the inner ear causing deafness and balance problems and damages the rods and cones in the retina causing vision loss. Unless there is a family history of Usher syndrome, it can be hard to determine the exact gene responsible and therefore detect the disease in carriers with no symptoms.
Living with Usher Syndrome
Understandably a diagnosis of Usher syndrome will be frightening for the patient, or their parents in the case of early diagnosis. As such, various professional agencies will be there to assist with the practicalities of life with vision and hearing problems and also the mental health concerns around future sight or hearing loss.
A good place to start is: www.sense.org.uk
It’s important to remember that Usher syndrome can take many years to develop and will not necessarily hold you back. There are many clever pieces of technology out there that could help you lead a good life allowing you to get a job, travelling, having a family – never feel you are alone following diagnosis of Usher Syndrome.
People may ask:
Unless you develop symptoms or have a family history of Usher syndrome, it can be hard to detect the faulty genes responsible for Usher syndrome.
While genetic modification is being researched, Usher syndrome cannot be prevented.