Usher Syndrome

The most frequent disorder affecting hearing, vision, and occasionally balance is called Usher syndrome. It is characterized mainly by deafness or hearing loss and retinitis pigmentosa.

Last Updated: February 21, 2024

Usher syndrome affects between 4 and 17 out of every 100,000 people. It is responsible for about half of all cases of inherited deaf-blindness. Three to six percent of deaf children and another three to six percent of children with hearing loss are found to have the syndrome.

Usher syndrome is a genetic disorder. An individual inherits it from his parents' mutant (altered) DNA.

There are three types of Usher syndrome, classified according to symptoms presentation in terms of hearing, vision, and balance.

Type 1

  • Severe or total hearing loss or congenital deafness
  • Impaired night vision as early as age 10, with severe vision loss by midlife
  • Problems with balance since infancy

Type 2

  • Moderate to severe hearing loss at birth
  • Decreased night vision by adolescence, and total blindness by midlife
  • Normal balance

Type 3

  • Deterioration of hearing beginning in childhood or adolescence
  • Variable in both degree and beginning age, night vision issues typically appear throughout the teenage years and lead to profound blindness by midlife.
  • Normal to near-normal balance in childhood, but there is a probability of difficulties in adulthood.

Diagnosis of Usher syndrome is made through:

  • Hearing tests to check for different sounds and frequencies a patient can only hear to
  • Vision tests to search for retinal damage typical in retinal pigments and severity of losses in vision
  • Genetic testing to check the mutations that cause the condition. A simple blood test can detect the nine Usher syndrome genes.

Treatment

Unfortunately, there is no cure for Usher syndrome at present, although there are several options for managing it. Treatments are geared toward enhancing patients' communicative and functional abilities. Some possible treatments are:

  • Hearing aids can be helpful for those with mild to moderate hearing loss. As deafness is a late symptom of Usher syndrome, these aids can benefit children born with Type 2 or 3 Usher syndrome.
  • Children with profound hearing loss may benefit from cochlear implants. Those with Type 1 Usher syndrome in children typically require these.
  • Prescription glasses for night vision problems.
  • Vitamin A supplementation because there is some evidence that vitamin A supplementation can help halt the progression of retinitis pigmentosa. However, vitamin A should not be taken without first consulting a doctor, especially in women who are trying to conceive.

Because Usher syndrome is inherited, there is no way to prevent it. However, by taking a genetic test, it is possible to identify if a person carries the gene.

 

References

National Institute on Deafness and Other Communication Disorders (2022). Usher Syndrome. Retrieved December 26, 2022, from https://www.nidcd.nih.gov/health/usher-syndrome

 

Cleveland Clinic (2022). Usher Syndrome. Retrieved December 26, 2022, from https://my.clevelandclinic.org/health/diseases/15046-usher-syndrome

Last Updated: February 21, 2024