Usher Syndrome

What is Usher syndrome?

Usher syndrome is the most common condition that involves both hearing and vision problems. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing impairment and retinitis pigmentosa, an eye disorder that causes a person's vision to worsen over time. Some people with Usher syndrome also have balance problems. There are three general types of Usher syndrome. Although the syndrome was first described by Albrecht Von Graefe in 1858, it was named for Charles Usher, a British eye doctor, who believed that the condition was inherited or passed from parents to their children.

Who is affected by Usher syndrome?

Approximately 3-6 percent of all deaf children and perhaps another 3-6 percent of hard-of-hearing children have Usher syndrome. In developed countries such as the United States, about 4 babies in every 100,000 births have Usher syndrome.

What causes Usher syndrome?

Usher syndrome is inherited or passed from parents to their children through genes. Genes are located in every cell of the body, except for red blood cells, which don't have a nucleus. Genes contain instructions that tell cells what to do. Some genes specify traits such as hair colour. Other genes are involved in the development of body parts, such as the ear. Still others determine how parts of the body work. Each person inherits two copies of each gene, one from each parent.

Sometimes genes are altered or mutated. Mutated genes may cause cells to act differently than expected. Genes for Usher syndrome are autosomal recessive, a term meaning that 1) Usher genes are located on chromosomes other than the sex chromosomes, and 2) both parents must contribute the mutated gene to the child before the disorder is seen. Usually, parents are unaware that they have an Usher gene because they would need two of the mutated genes in order to show signs of Usher syndrome. A number of different genes have been found to cause the various types of Usher syndrome.

What are the types of Usher syndrome?

The three types of Usher syndrome are Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2), and Usher syndrome type 3 (USH3). USH1 and USH2 are the most common types. Together, they account for approximately 90-95 percent of all cases of children who have Usher syndrome.

What are the characteristics of the three types of Usher syndrome?

People with USH1 are profoundly deaf from birth and have severe balance problems. Many of these individuals obtain little or no benefit from hearing aids. Most use sign language as their primary means of communication. Because of the balance problems, children with USH1 are slow to sit without support and rarely learn to walk before they are 18 months old. These children usually begin to develop vision problems by the time they are ten. Visual problems most often begin with difficulty seeing at night, but tend to progress rapidly until the individual is completely blind.

Individuals with USH2 are born with moderate to severe hearing impairment and normal balance. Although the severity of hearing impairment varies, most of these children perform well in regular classrooms and can benefit from hearing aids. These children most commonly use speech to communicate. The visual problems in USH2 tend to progress more slowly than the visual problems in USH1. USH2 is characterised by blind spots that begin to appear shortly after the teenage years. When an individual's vision deteriorates to blindness, his or her ability to speechread is lost.

Children born with USH3 have normal hearing and normal to near-normal balance. Hearing worsens over time. However, the rate at which hearing and sight are lost can vary between affected individuals, even within the same family. Children develop noticeable hearing problems by their teenage years and usually become deaf by mid- to late adulthood. Night blindness usually begins sometime during puberty. Blind spots appear by the late teenage years to early adulthood. By mid-adulthood, the individual is usually blind.

How is Usher syndrome diagnosed?

Hearing loss and retinitis pigmentosa are rarely found in combination. Therefore, most people who have retinitis pigmentosa and hearing loss probably have Usher syndrome. Special tests such as electronystagmography (ENG) to detect balance problems and electroretinography (ERG) to detect retinitis pigmentosa help doctors to detect Usher syndrome early. Early diagnosis is important in order to begin special educational training programs to help the individual manage the combined hearing and vision difficulties.

How is Usher syndrome treated?

Presently, there is no cure for Usher syndrome. The best treatment involves early identification in order to begin educational programs. The exact nature of these educational programs will depend on the severity of the hearing and vision impairments as well as the age and abilities of the individual. Typically, individuals will benefit from adjustment and career counselling; access to technology such as hearing aids, assistive listening devices, or cochlear implants; orientation and mobility training; and communication services and independent-living training that may include braille instruction, low-vision services, or auditory training.