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What is Usher Syndrome?

What is Usher Syndrome?

Usher Syndrome is a hereditary, genetic condition that affects hearing and vision.

In 1914, a British ophthalmologist named Charles Usher was the one who first found the genes that trigger this syndrome. He described it as a rare genetic abnormality that is passed down from both the mother and the father. Frequently, neither parent knows that they are carriers of Usher Syndrome and are surprised to learn that it is a hereditary condition.

Types of Usher Syndrome

There are three types of Usher Syndrome:

  • Type One.  Children who have type one Usher Syndrome are born with it. They rarely develop a normal sense of hearing or balance control. Over time, these children may lose part or all of their sight. Some may be born with sight impairments.  Because of their impaired senses sometimes they may have learning and developmental challenges.
  • Type Two.  Although type two Usher Syndrome is less severe than type one, it also affects children from infancy. These children have normal balance but may be born with slight hearing loss, which can be corrected with the use of hearing aids. Sight issues may not occur until well into their teenage years.
  • Type Three. Because it is the least severe of the three types, children with Type Three Usher Syndrome may go through most of childhood without any hearing, vision or balance problems. Vision symptoms such as night blindness may start showing up around puberty. Hearing and balance issues may slowly develop as well, but the rate varies from person to person.

What Causes Usher Syndrome?

Usher Syndrome is a genetic condition which is not sex linked, meaning either gender can carry its genetic markers. It is estimated that one in ten people carry at least one marker for this condition. In order for the condition to be passed to their offspring, both parents must carry identically marked genes. Parents who carry different genes can still produce children who are carriers of the genes, but the children won’t develop the condition. Children who inherit mutated forms of these genes have a greater chance of developing the characteristics of this syndrome. 

Usher Syndrome Diagnosis

Diagnosis of this condition involves a three part process: examining the cause of both hearing and vision loss and determining what is causing balance problems.

Tests may include:

  • Visual field testing – determines how well the patient sees through the outer sides of their eyes.
  • Electroretinogram (ERG) – evaluates how well the eye responds to light. 
  • Retina exam – reveals any obstruction of sight between the retina and the nerve ending in the back of the eye.
  • Electronystagmogram (ENG) – detects involuntary eye movements that could lead to physical imbalance issues. 
  • Audiologic evaluation –diagnostic evaluation use to see how loud a sound must be before the patient is able to hear it.

Treatment Options

Treatment options depend on multiple factors: the age of the patient, the severity of the symptoms and how far the condition has progressed.

Treatment options may consist of:

  • Sign language education.
  • Hearing aids or other advanced hearing devices.
  • Cochlear implants.
  • Training in reading brail.
  • Mobility training, including how to adapt to a lack of sight or hearing.
  • Vitamin replacement therapy.

Prognosis

Because there is still little known about Usher Syndrome, a cure has yet to be found. However, with early diagnosis and proper educational and training programs, children with this condition are generally able to lead full, active lives. 

 

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