Usher syndrome is a genetic or inherited condition that affects hearing, vision and balance.
People with Usher can achieve a great deal with the right support. A person’s sight and hearing loss will require changes to how they communicate, access information and explore the environment. The diagnosis of sight and hearing loss can have a significant emotional impact.
Sight and hearing impairment
The sight loss is caused by an eye condition known as retinitis pigmentosa (RP), which leads to a gradual and progressive reduction in vision.
The hearing loss is sensori-neural deafness – a problem with the inner ear or the auditory nerve. Usually a person with Usher experiences the hearing loss from birth.
Balance and Usher types
Some types of Usher syndrome affect the development of the vestibular organs in the inner ear, which are responsible for balance and sense of space.
People with Usher type one have poor balance, and about half of all people with type three develop balance problems over time. People with Usher type two may experience balance problems as a result of a combined sight and hearing loss.
There are broadly three types of Usher - types one, two and three. The age of onset, the extent and the progression of sight, vision and balance problems varies with each individual and each type. As genetic knowledge develops further sub-divisions and types are suggested.
Diagnosis, support and treatment
Congenital deafness and RP are rarely found together, and so most people who have both probably have Usher
Identification and diagnosis of Usher is improving all the time and early diagnosis is very important.
Diagnosis is usually done through hearing, and vision tests. Balance tests may also play a role in diagnosis.
There is no cure for Usher syndrome but there are a number of steps people can take to protect their vision and hearing, as well as adjust to the emotional, communication and other day-to-day challenges Usher presents. With the research that is being done today, treatments may in the future slow down or stop further sight loss.
Studies in the deaf population suggest an estimated incidence of 4 per 100,000 of the population. The latest genetic research suggests there may be more people with Usher than previously thought, with an estimated incidence of 15 per 100,000 live births.
More than 50 studies in schools for the deaf from around the world suggested three to six per cent of the deaf population had Usher syndrome. All of these studies focussed on deaf populations, particularly those with a profound hearing loss.
More recently, research into the genetics of Usher has suggested 15-18 per cent of deaf and hard-of-hearing children have a genetic make up that suggests Usher syndrome, and that Usher in the general population is estimated at the rate of 1 in 6,500 births, or 15 per 100,000 live births.
First published: Friday 8 June 2012
Updated: Tuesday 15 October 2013