Usher syndrome is a genetic disorder, and the most common genetic cause of deafness and blindness.
It affects one’s hearing and vision that worsens over time. The eye disorder is called retinitis pigmentosa (RP), which causes night blindness and side vision. As RP progresses, the vision fields narrow, also known as “tunnel vision“, as it looks like a person is seeing through a tunnel.
It is passed from parents to children and is caused by a mutation in genes. Usher syndrome affects the genes which provide instructions for making protein involved in normal hearing, balance and vision. Both male and female can be affected by the condition.
Types of Usher Syndrome
Children with type one usher syndrome are almost totally deaf by birth. They also have a serious balance problem and develop vision problems in their early childhood which begins with night blindness. Because of their balance problem, they are usually late walkers and cannot sit without support in their early childhood. These balance issues are present throughout life and often become very noticeable in low light as vision degrades.
Children with type two have moderate to severe hearing loss at birth and normal balance. Their hearing does not degrade over time. They develop night vision problem as teenagers which progress throughout life as they develop vision impairment called Retinitis Pigmentosa(RP). Their central vision stays good for most of their lives still, a few people may become blind as an older adult.
Children with type three have normal hearing at birth and almost normal balance, some may develop balance problem later on. They experience gradual hearing and vision loss. The rate of loss differ among children and hearing loss is apparent by teens.
Vision impairment known as retinitis pigmentosa often arises during puberty as night blindness, blind spot occur by late teens and total blindness by middle age.
How is it treated?
Although there is a lot of research on Usher syndrome, currently there is no cure for it yet. The best treatment involves early identification and professional help which focuses on helping the child adapt to hearing and vision loss so that they can live a normal life.
Typical treatment involves:
– Hearing aids
– Assistive listening devices
– Cochlear implants
– Sign language
– Braille instructions
– Orientation and mobility training
– Low vision services
Some eye doctors also believe that high dose of vitamin A palmitate can slow down the changes in the eye due to retinitis pigmentosa.
Can it be prevented?
There is nothing we can do to prevent an individual from having Usher syndrome due to the cause being a change in DNA.
In order to pass the gene of usher syndrome to a child, both parents must carry it. Parents are the carrier if they have the genes but don’t show any symptoms of it. If a child carries one gene for usher syndrome they are called carrier of it and it is not necessary for them to show any changes.
Come let’s shine a light on Usher syndrome and make people aware of it. Let everyone know about it so that they can get the right treatment or help for their loved ones before it’s too late. Because there is still light at the end of this dark tunnel.
Edited by Preetika Dubey