Usher Syndrome
Updated June 08, 2015.
Written or reviewed by a board-certified physician. See About.com's Medical Review Board.
Usher syndrome is an inherited genetic condition characterized by the progressive loss of eyesight as well as hearing. People with Usher syndrome sometimes develop hearing loss or deafness at birth along with retinitis pigmentosa (RP). RP is an eye condition that affects the retina and causes decreased peripheral vision and severe night vision loss. About one in 50,000 people in the United States have Usher syndrome.
Pediatricians often refer children with symptoms of Usher syndrome to an eye care practitioner, who may perform a computerized visual field test to reveal loss of peripheral vision. A dilated eye exam will also be performed to look for signs of RP. A specialized eye test called an ERG (electroretinogram) is often performed for a definitive diagnosis of RP. Like an EKG for your heart, an ERG can measure the electric impulse that your retina produces to show RP-like signs.
You may benefit from hearing aids, cochlear implants and sign language training. Vision loss may be enhanced with low vision aids such as magnifiers, telescopes and mobility training.
While not a cure, vitamin A has been found to slightly slow the progression of RP. Also, using sunglasses to protect the retina from ultraviolet light rays may help preserve vision.
Source List:
Schartman, Jerome and Ingrid Scott. "How to Manage Vision Loss in Retinitis Pigmentosa." EyeNet Magazine 05 June 2007.
Boughton, Barbars. "Childhood Retinal Dystrophies." EyeNet Magazine, AAO, 2010.
Written or reviewed by a board-certified physician. See About.com's Medical Review Board.
Usher syndrome is an inherited genetic condition characterized by the progressive loss of eyesight as well as hearing. People with Usher syndrome sometimes develop hearing loss or deafness at birth along with retinitis pigmentosa (RP). RP is an eye condition that affects the retina and causes decreased peripheral vision and severe night vision loss. About one in 50,000 people in the United States have Usher syndrome.
Causes of Usher Syndrome
Usher syndrome is an inherited condition sometimes passed from parents to their children. Usher syndrome is passed through an autosomal recessive inheritance pattern. (Each parent usually carries one copy of a mutated gene and has no symptoms of the syndrome at all.) Genetic counselors may be helpful in determining one’s risk of having a child with Usher syndrome.Types of Usher Syndrome
There are three different types of Usher syndrome:- Type 1: Type 1 Usher syndrome is the most severe. If you suffer from this type, you may have profound hearing loss or complete deafness at birth. You may also have significant balance problems which may contribute to delayed physical development. The RP in people with Type 1 progresses much more rapidly and can develop into complete blindness, with decreased night vision ocurring before the age of 10.
- Type 2: People with Type 2 Usher syndrome are born with moderate hearing loss and fairly normal balance. Because hearing loss is less severe, hearing aids may be beneficial. The RP usually does not appear until the teenage years.
- Type 3: If you have Type 3 Usher syndrome, you may have had completely normal hearing at birth. With Type 3, hearing and vision problems usually become apparent as you enter the teenage years, but the rate at which the condition worsens varies from person to person. Balance problems may develop later in life, and hearing aids may be required in mid adulthood.
Diagnosis of Usher Syndrome
Early diagnosis is crucial in Usher syndrome because hearing and vision conditions improve markedly the earlier treatment is begun. Pediatricians are often the first physicians to diagnose the condition, as its symptoms usually appear in childhood. Hearing and balance tests often reveal clues to the diagnosis.Pediatricians often refer children with symptoms of Usher syndrome to an eye care practitioner, who may perform a computerized visual field test to reveal loss of peripheral vision. A dilated eye exam will also be performed to look for signs of RP. A specialized eye test called an ERG (electroretinogram) is often performed for a definitive diagnosis of RP. Like an EKG for your heart, an ERG can measure the electric impulse that your retina produces to show RP-like signs.
Treatment of Usher Syndrome
Unfortunately, there is no cure for Usher syndrome at this time. The treatment plan for Usher syndrome is focused on early diagnosis. The earlier educational programs are started, the better and more productive your life tends to be with Usher syndrome. Early hearing and vision treatments produce far better outcomes than delayed treatment.You may benefit from hearing aids, cochlear implants and sign language training. Vision loss may be enhanced with low vision aids such as magnifiers, telescopes and mobility training.
While not a cure, vitamin A has been found to slightly slow the progression of RP. Also, using sunglasses to protect the retina from ultraviolet light rays may help preserve vision.
Ongoing Research of Usher Syndrome
Research is ongoing in the possibility of transplanting retinal cells in hopes that the new cells will replace the defective retinal cells. Research is also ongoing in gene therapy. A normal copy of the gene is implanted into the retina to replace the mutated gene.Source List:
Schartman, Jerome and Ingrid Scott. "How to Manage Vision Loss in Retinitis Pigmentosa." EyeNet Magazine 05 June 2007.
Boughton, Barbars. "Childhood Retinal Dystrophies." EyeNet Magazine, AAO, 2010.
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