Usher Syndrome

What is Usher syndrome?

Usher syndrome is a condition that results in impairment of both hearing and vision, as well as balance. It is diagnosed in children who have inherited an abnormal gene for Usher syndrome from both parents. There are three types, varying in the manner and timing of the onset of symptoms. It is rare, affecting some 4-17 people per 100,000, and is responsible for half of all hereditary combined deafness and blindness.

The vision impairment in children with Usher syndrome is due to the development of retinitis pigmentosa. Learn more about retinitis pigmentosa. 

What are the symptoms of Usher syndrome?

Children with Usher syndrome may demonstrate:

• Hearing loss, detected either at birth or later (depending on the type of Usher syndrome)
• Delays in learning how to sit up
• Difficulty seeing at night
• Balance problems
• Blind spots

How is Usher syndrome diagnosed?

The doctor asks questions about the patient’s medical and family history and conducts tests of balance, hearing, and vision. A comprehensive dilated eye exam can detect the signs of retinitis pigmentosa, such as abnormal streaks of pigment on the retinas. Genetic testing can uncover the gene responsible for Usher syndrome in an individual patient; there have been nine genes identified so far.

How is Usher syndrome treated?

There is no cure for Usher syndrome, but steps can be taken to maximize vision and hearing:

• Orientation and mobility training can teach children how to move about and maximize balance.
• Cochlear implants are an option to restore hearing in some deaf children
• Hearing aids and low-vision aids can improve use of hearing and vision
• High doses of vitamin A may be an option for some patients
• Early intervention is vital to optimize communication in children with Usher syndrome