Usher Syndrome

What is Usher Syndrome?

Usher syndrome is a disease that causes both hearing loss and an eye disorder called retinitis pigmentosa (RP). In RP, the retina at the back of the eye gradually deteriorates and leads to loss of peripheral vision and night vision. The field of vision narrows until you can only see straight ahead. Because of the problems with both hearing and sight, many people who suffer from Usher Syndrome have trouble with balance as well.

Usher syndrome is a genetic condition that is usually detected in early childhood. There are three types: Type 1 babies are born with little or no hearing and develop vision problems by age 10; Type 2 babies are born with moderate hearing loss and vision problems develop slowly starting in the teen years; and Type 3 babies are born with almost normal hearing and don’t develop any problems until their teens.

What are the Symptoms of Usher Syndrome?

The main symptoms associated with Usher syndrome are hearing and vision loss, but how rapidly those occur depends on the type of Usher syndrome a patient has.

Balance difficulties are one of the main signs of Type 1 Usher syndrome. Most children with the condition are unable to sit or walk without significant help and training. Other types may have minor issues with balance.

Usher Syndrome Cause

Usher syndrome has two primary characteristics; inner ear abnormalities and the deterioration of the retina’s light sensing cells. Both conditions result in a loss of hearing and vision, varying in degree from early adolescent and worsening over time as we mature.

The principal cause of Usher syndrome is genetics. The core cause of Usher syndrome is an autosomal recessive disorder, involving two types of genes. One is mutated (recessive) and one is normal (dominant). As an offspring susceptible to Usher syndrome, you inherit one copy of each gene from your parents.

In rare cases, the offspring inherits two copies of the mutated gene, gaining dominance over the normal gene increasing the risks of Usher syndrome. In both cases, one or both parents may not show any symptoms of the disease, but they still carry the gene and pass it on to the next generation. The strength or dilution of the identified mutated gene is responsible for the syndrome’s severity and the rate of hearing and vision deterioration.

How is Usher Syndrome Treated?

Children with Usher syndrome often are fitting with hearing aids at a young age or use other types of assistive listening devices. Some children are good candidates for cochlear implants, which can restore some or all hearing.

It’s recommended that children diagnosed with Usher syndrome learn American Sign Language (ASL) and Braille, which can help them communicate as the disease takes away their ability to hear and see.

Balance issues can be addressed through physical therapy and occupational therapy. Children can learn how to remain mobile in spite of their issues with balance.

For some patients, high doses of some types of vitamin A can be helpful in slowing the progression of the vision loss associated with Usher syndrome. This should only be given under a doctor’s guidance to avoid doses that are too high.

Usher Syndrome Prevention

Although there is no known cure for Usher syndrome, there are effective DNA tests for early diagnosis helping to determine the level of severity of the disease. Your doctor and specialist can help parents and patients learn how to live with Usher syndrome.

Hearing can be enhanced using a hearing aid and cochlear implants depending on other health conditions. Communication programs are available through the American Sign Language and the Braille Institute. Today, higher education facilities offer specialized programs for hearing and visually impaired students.

Nutritionists and ophthalmologists recommend Vitamin A palmitate as a prevention option to slow the progression of the eye’s retina degeneration associated with Usher syndrome. Before making any change to your diet, you should speak with your doctor.

Last Reviewed:
October 11, 2016
Last Updated:
September 10, 2017