Definition

Usher syndrome is a rare inherited disorder that involves loss of both hearing and sight. Hearing loss]]> is usually present at birth or soon thereafter. It is due to an impaired ability of the auditory nerves to transmit sensory input to the brain. It is called sensorineural hearing loss.

The vision loss, called ]]>retinitis pigmentosa]]> (RP), begins later in childhood, usually after age ten. It slowly gets worse over time. During the teen years, loss of vision is characterized by night blindness and loss of peripheral vision. RP is a deterioration of the retina. The retina is a layer of light-sensitive tissue that lines the back of the eye. It converts visual images into nerve impulses in the brain that allow us to see.

Nerve and Retina of the Eye

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Three types of Usher syndrome have been identified: types I, II, and III. The age of onset and severity of symptoms distinguish the different types.

Approximately 4 out of 100,000 infants born in the United States have Usher syndrome. Usher syndrome accounts for 3%-6% of all deaf children and 3%-6% of all hard-of-hearing children.

Causes

Usher syndrome is caused by a genetic mutation. It is passed from parent to child in an autosomal recessive manner. This means that a child must inherit one defective gene from each parent in order to develop Usher syndrome. If a child inherits one defective gene, he or she will be a carrier and will not have any symptoms. It is unclear what causes the mutation in the gene.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition. The only known risk factor for Usher syndrome is having parents with the disorder and/or parents who carry the genes for the disorder. If both parents carry the abnormal gene, you have a 25% chance of inheriting both of these abnormal genes and therefore developing Usher syndrome.

Symptoms

The main symptoms of Usher syndrome are hearing and vision loss. Some people also have balance problems due to inner ear problems.

The progression of RP limits a person’s ability to see in dim light or the dark (night blindness). It also causes a person to lose peripheral (side) vision slowly over time. Eventually, any vision left is only in a small tunnel-shaped area. Almost everyone with RP becomes legally blind. There is no known way of predicting when or how quickly a person will lose vision.

Symptoms and characteristics of each type include the following:

• Type I
  • Deaf at birth and receive little or no benefit from hearing aids
  • Severe balance problems
  • Slow to sit without support
  • Rarely learn to walk before age 18 months
  • RP begins by age 10 with difficulty seeing at night, and quickly progresses to blindness
• Type II
  • Born with moderate to severe hearing loss, and can benefit from hearing aids
  • No balance problems
  • RP begins in the teenage years
• Type III
  • Born with normal hearing that gets worse in the teenage years and leads to deafness by mid to late adulthood
  • Born with near-normal balance
  • RP begins in the early teenage years as night blindness, and leads to blindness by mid-adulthood

Diagnosis

The doctor will ask about symptoms and medical history and perform a physical exam. Hearing loss is determined with standard hearing tests. Balance problems can be detected with a test called electronystagmography (ENG). In this test, the doctor flushes the ears with warm and then cool water. This causes nystagmus, which is rapid eye movements that can help the doctor detect a balance disorder.

An eye doctor will perform an eye exam, which will likely include the following:

• Visual field test to check side vision
• Test to check for ability to adapt to seeing in the dark
• Test to check sensitivity to color and contrast

If any problems are found on these tests, an electroretinography (ERG) is done. This test confirms a diagnosis of RP. It measures the electricity given off by the nerves in the retina. The test is done while wearing special contact lenses and looking at a flashing light.

Treatment

There is no cure for Usher syndrome. The best treatment is to identify the disorder as early as possible and begin educational programs and other services right away. This helps reduce the communication and learning problems that can result from hearing and vision loss.

The specific programs and services depend on the severity of the hearing, vision, and balance problems and the person's age and abilities. Options include:

• Hearing aids
• Assistive listening devices
• Cochlear implant]]> —a small device surgically put under the skin behind the ear to give deaf people some ability to hear
• Adjustment and career counseling
• Training to help with balance and movement
• Low vision services
• Communications training
• Skills in living independently

Prevention

Currently, there is no known way to prevent Usher syndrome.