Usher Syndrome

What is Usher syndrome?

Usher syndrome is a rare, inherited disorder characterized by partial or total hearing loss and gradual vision loss that worsens over time. An eye disorder called retinitis pigmentosa (RP) is a major symptom of Usher syndrome. The retinas of the eyes are slowly damaged over time and as RP progresses, the field of vision narrows, known as “tunnel vision,” until only central vision (the ability to see straight ahead) remains. Many people with Usher syndrome also have severe balance problems. There are three clinical types of Usher Syndrome:
 
  • Type 1 – causes profound deafness. Poor balance is often associated with it, which causes delays in the age of sitting and walking. RP may be noticed before the age of 10. 
  • Type 2 – causes a moderate hearing loss and balance is not affected. RP may not become apparent until adolescence. Speech assisted by the use of lip-reading and hearing aids will usually be their first method of communication.
  • Type 3 – Children usually have normal hearing and sight from birth, then develop hearing loss and RP in adolescence or later. Hearing can deteriorate steadily over ten to fifteen years, and some people also experience balance problems. 
 
 
Risk factors
 
  • Heredity. Having parents who are carriers for the disease increases the chances of inheritance. 
 
 
Diagnosis
Diagnosis of the disorder usually includes the evaluation of hearing, balance, and vision. Tests include:
 
  • Electronystagmography (ENG) checks eye movements to help diagnose balance problems.
  • Eye exam. An eye doctor will take a close look at the retina.
  • Electroretinography (ERG) checks how the retina reacts to light. It is used to diagnose retinitis pigmentosa.
  • Hearing evaluation. A hearing specialist will examine the ears and do a series of tests to check your child’s hearing.
 
*Once a child is diagnosed, he or she may have genetic testing to find out the type of Usher syndrome*
 
 
Treatment
Treatment focuses on helping the patient adapt to hearing and vision loss so that they can enjoy a normal life as much as possible. Currently, there is no cure for Usher syndrome.
 
 
# USHER SYNDROME BY THE NUMBERS #
  • In the United States, types 1 and 2 account for approximately 90 - 95% of all cases in children.
  • About four babies in every 100,000 births have Usher syndrome in the United States. 
  • More than 400,000 people are affected by this disorder worldwide.
 
usher syndrome about
 
 

Sources
  • "Usher Syndrome." National Institute of Deafness and Other Communication Disorders. U.S. Department of Health and Human Services, 06 Mar. 2017. Web. 13 June 2017.
  • "Usher Syndrome Symptoms, Types & Treatment." Cleveland Clinic. Cleveland Clinic, 10 Mar. 2016. Web. 13 June 2017.
  • "What Is Usher Syndrome?" Usher Syndrome Coalition. Usher Syndrome Coalition, n.d. Web. 13 June 2017.
  • "Usher Syndrome in Children." Usher Syndrome in Children | Johns Hopkins Medicine Health Library. Johns Hopkins Health System, n.d. Web. 13 June 2017.
  • "Usher Syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 13 June 2017.

 

While Usher syndrome accounts for roughly 50 percent of deaf-blindness in adults, the disorder itself is relatively rare. Approximately 400,000 people are affected by the disorder worldwide; 16,000 of which reside in the United States. Based on the severity of symptoms and the age at which they manifest, there are three types of Usher syndrome: Usher Type I, Usher Type II, and Usher Type III. Existence of a fourth type is a hotly debated issue among medical specialists. To learn more about the different types of Usher syndrome, check out the infographic below:
 
understanding usher syndrome

 

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