Understanding Usher Syndrome

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Understanding Usher Syndrome

Usher syndrome impacts both hearing and sight, with severity ranging from mild impairment to complete deafness and blindness. The vision loss caused by the condition — retinitis pigmentosa by name —  tends to be progressive. This means that the retinas are accumulating greater and greater damage over time. Let’s take a look at understanding Usher syndrome.

It’s important to note that retinitis pigmentosa is not unique to Usher syndrome but can actually be caused by a range of different conditions. Also of note is the fact that although Usher syndrome is relatively rare compared to other congenital issues, it’s still the most common source of dual hearing and vision loss in children. But how does it develop, exactly?

And is there a cure? 

What Causes Usher Syndrome to Develop? 

Usher syndrome is not a typical illness but rather a genetic disorder. It manifests if one or both parents of a child are carriers of the genetic abnormality that causes the condition. If both parents possess the recessive gene, the chance of it being passed to a child is approximately 25%.  

Generally speaking, the symptoms of Usher syndrome are a combination of the following:

  • Deafness or hearing impairment
  • Problems with vision or blindness.
  • Balance issues. 

What are the Different Classifications of Usher Syndrome? 

There are  three distinctive ‘classes’ of Usher syndrome, organized based on how the condition manifests.

Type I Usher Syndrome

  • Near-total deafness. 
  • Significant/severe balance problems. 
  • Vision problems develop before the age of ten, beginning with trouble seeing at night before progressing to complete blindness. 
  • Rarely receive any benefit from hearing aids. 

Type II Usher Syndrome

  • Moderate to severe hearing impairment.
  • No balance issues.
  • May experience impaired night vision as teenagers, but this does not progress to total blindness.

Type III Usher Syndrome

  • Normal hearing. 
  • May experience balance issues later in life.
  • Gradual loss of hearing and vision, usually only apparent by the time the child is a teenager.
  • Experience night blindness during puberty, which progresses to blind spots by young adulthood and total blindness by the time they reach middle age.

How is Usher Syndrome Diagnosed? 

When a child is born, if one or both parents are aware that they carry the abnormality, the child will be put through a series of highly specific tests. In the absence of these tests, a child’s pediatrician may discover the condition through routine testing of eyesight, balance, and vision. 

If a pediatrician suspects that a child may have Usher syndrome, they will often refer the parents to specialists for both further care and more comprehensive diagnostics. Should these diagnostics show any indication that the condition might be present, the next step usually involves genetic testing to confirm the diagnosis and determine what specific classification of Usher syndrome is present. 

How is Usher Syndrome Treated? 

Treatment of Usher syndrome largely depends on a child’s overall health, as well as the presence and severity of the condition’s various symptoms. Unfortunately, at the present moment, there is no known cure. That said, an early diagnosis is crucial in helping families cope with the condition. 

A parent should contact their pediatrician immediately if they notice any unexpected and unexplained hearing, balance, or visual difficulty. Both the parents and their child should also be prepared for the hearing, visual, and balance impairments to worsen over time, which will require ongoing support and care. 

Perhaps at some time in the future, research will progress to the point that Usher syndrome is curable. Until then, however, the best any of us can do is manage it. Treatment options to that end include: 

  • Cochlear implant surgery.
  • Auditory training.
  • Hearing aids.
  • Visual aids/supports.
  • Counseling for coping with a long-term, chronic illness. 
  • Mobility exercises to assist with vestibular symptoms. 

About the Author:

About the Author:

Dr. Renee Flanagan is the Director of Audiological Care at HearingPlanet. She works with the training and development of Hearing Care staff so they may help the hearing impaired population by following best in class hearing healthcare practices.

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