Retina SA Eastern Cape Branch

Usher syndrome is the most common condition that affects both hearing and vision. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina. The retina is a light-sensitive tissue at the back of the eye and is crucial for vision. As RP progresses, the field of vision narrows—a condition 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.

Researchers have identified three clinical types of Usher syndrome: type 1, type 2, and type 3. These types are distinguished by their severity and the age when signs and symptoms appear.

Type 1

Children with type 1 Usher syndrome are profoundly deaf at birth and have severe balance problems. Many of these children obtain little or no benefit from hearing aids. Parents should consult their doctor and other hearing health professionals as early as possible to determine the best communication method for their child. Intervention should be introduced early, during the first few years of life, so that the child can take advantage of the unique window of time during which the brain is most receptive to learning language, whether spoken or signed. If a child is diagnosed with type 1 Usher syndrome early on, before he or she loses the ability to see, that child is more likely to benefit from the full spectrum of intervention strategies that can help him or her participate more fully in life’s activities.

Because of the balance problems associated with type 1 Usher syndrome, children with this disorder are slow to sit without support and typically don’t walk independently before they are 18 months old. These children usually begin to develop vision problems in early childhood, almost always by the time they reach age 10. Vision problems most often begin with difficulty seeing at night, but tend to progress rapidly until the person is completely blind.

Type 2

Children with type 2 Usher syndrome are born with moderate to severe hearing loss and normal balance. Although the severity of hearing loss varies, most of these children can benefit from hearing aids and can communicate orally. The vision problems in type 2 Usher syndrome tend to progress more slowly than those in type 1, with the onset of RP often not apparent until the teens.

Type 3

Children with type 3 Usher syndrome have normal hearing at birth. Although most children with the disorder have normal to near-normal balance, some may develop balance problems later on. Hearing and sight worsen over time, but the rate at which they decline can vary from person to person, even within the same family. A person with type 3 Usher syndrome may develop hearing loss by the teens, and he or she will usually require hearing aids by mid- to late adulthood. Night blindness usually begins sometime during puberty. Blind spots appear by the late teens to early adulthood, and, by mid-adulthood, the person is usually legally blind.

Who is affected by Usher syndrome?

Approximately 3 to 6 percent of all children who are deaf and another 3 to 6 percent of children who are hard-of-hearing have Usher syndrome. In developed countries such as the United States, about four babies in every 100,000 births have Usher syndrome.

Is genetic testing for Usher syndrome available?

So far, 11 genetic loci (a segment of chromosome on which a certain gene is located) have been found to cause Usher syndrome, and nine genes have been pinpointed that cause the disorder. They are:

  • Type 1 Usher syndrome: MY07A, USH1C, CDH23, PCDH15, SANS
  • Type 2 Usher syndrome: USH2A, VLGR1, WHRN
  • Type 3 Usher syndrome: USH3A

With so many possible genes involved in Usher syndrome, genetic tests for the disorder are not conducted on a widespread basis. Diagnosis of Usher syndrome is usually performed through hearing, balance, and vision tests. Genetic testing for a few of the identified genes is clinically available.

Where can I get more information?

RETINA SA EASTERN CAPE BRANCH 
Newton Park
Port Elizabeth, South Africa

T:041 363 0164   Fax: 086 774 2739

eastcape@retinasa.org.za     

www.retinasa.org.za