Usher Syndrome is a genetic condition that leads to loss of hearing, balance and vision. It is the most common cause of deaf-blindness and accounts for 2-6% of the deaf population. The vision loss from Usher Syndrome is retinitis pigmentosa (degenerating retinal cells).
This condition was described in 1914 by Charles Usher, an English eye doctor. It is autosomal recessive, meaning both parents must carry the gene for the condition to develop. 1 in 10 people carry the gene; however, there are at least ten different genes for it. Only when both parents carry the same gene does the condition develop, making it fairly rare.
There are three different types of Usher Syndrome.
Type One is the most severe. Children are born with severe deafness and balance problems and struggle to learn to sit up and walk. Walking does not usually commence until 18 months of age. Vision begins to deteriorate in the first decade of life, starting with night blindness and loss of peripheral vision and usually progressing to total blindness by the teens. It is extremely important to obtain a differential diagnosis early on, so that a child can benefit from all possible interventions while the brain is at its most plastic and there is still sight.
In Type Two, children have normal balance but are born with moderate to severe hearing loss. Vision deteriorates in the second decade of life, usually leading to total blindness in early adulthood.
In Type Three, balance is normal or almost normal and hearing loss begins in childhood or in the teenage years. Vision loss usually begins as a teenager, but the rate of both hearing and vision deterioration varies greatly from individual to individual.
In Types Two and Three, people can usually benefit from cochlear implants, which can restore the ability to hear. In these types of Usher Syndrome patients, a healthy lifestyle and proper supplementation may be able to slow disease progression.* Visit our retinal support page for more information about vision loss from Usher Syndrome.