Usher syndrome is a rare inherited disorder that involves loss of hearing and sight. Hearing loss is usually present at birth or soon after. It is due to the inability of the auditory nerves to send sensory input to the brain. It is called sensorineural hearing loss.
The vision loss, called retinitis pigmentosa (RP), usually happens after after age ten. RP is a deterioration of the retina. The retina is a layer of light-sensitive tissue that lines the back of the eye. It changes visual images into nerve impulses in the brain that allow us to see. RP slowly gets worse over time.
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 separate the different types.
Usher syndrome is caused by a genetic mutation. 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 not clear what causes the mutation in the gene.
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 developing Usher syndrome.
The main symptoms of Usher syndrome are hearing and vision loss. Psychological or behavioral disorders may occur before vision loss. Some people also have balance problems due to inner ear problems.
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 that is left is only in a small, tunnel-shaped area. Almost everyone with RP becomes legally blind. There is no way of knowing when or how quickly a person will lose vision.
Symptoms and characteristics of each type include the following:
The doctor will ask about symptoms and medical history. A physical exam will be done. 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:
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.
There is no cure for Usher syndrome. However, clinical trials are beginning using nutritional therapies and encapsulated cell technologies. The best treatment is to identify the disorder as early as possible and begin educational programs and 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:
National Eye Institute
National Institute on Deafness and Other Communication Disorders
The Megan Foundation
Alberta Health and Wellness
The Canadian National Institute for the Blind
Dammeyer J. Children with Usher syndrome: Mental and behavioral disorders. Behav Brain Funct . 2012; 8:16.
Usher syndrome. Boys Town National Research Hospital website. Available at: http://www.boystownhospital.org/research/molecularstudies/pages/ushersyndrome.aspx . Accessed December 27, 2012.
Usher syndrome. National Institute on Deafness and Other Communication Disorders website. Available at: www.nidcd.nih.gov/health/hearing/pages/usher.aspx . Updated February 2008. Accessed December 27, 2012.
What is Usher syndrome? Foundation Fighting Blindness website. Available at: http://www.blindness.org/index.php?option=com_content&view=article&id=56&Itemid=81 . Accessed December 27, 2012.
Last reviewed November 2012 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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