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What is Usher Syndrome, Causes and Symptoms of Usher Syndrome

Usher Syndrome

  • Posted on- Jun 02, 2018
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Usher Syndrome

Usher syndrome is the commonest condition that affects both hearing and vision perspective generally it also affects balance. The foremost symptoms of Usher syndrome are deafness or hearing disorder and an eye related disease known as retinitis pigmentosa (RP).

Deafness or hearing disorder in Usher syndrome is caused by abnormal development of hair cells within the internal ear.

Most children with Usher syndrome are born with moderate to profound hearing disorder, depending on the type. Less unremarkably, hearing loss from Usher syndrome seems throughout adolescence or later.

Usher syndrome may cause severe balance issues due to abnormal development of the vestibular hair cells, sensory cells that observe gravity and head movement.

Retinitis pigmentosa (RP) initially causes night-blindness and a loss of peripheral (side) vision through the progressive degeneration of cells within the membrane. The membrane is that the light-sensitive tissue at the rear of the eye and is crucial for vision.

As retinitis pigmentosa (RP) progresses, the field of vision narrows till solely central vision remains, a condition referred to as visual impairment. Cysts within the macula and cataracts will generally cause an early decline in central vision in individuals with Usher syndrome.

What causes Usher Syndrome?

Usher syndrome is inherited, which suggests that it's passed from parents to a child through genes. Everybody inherits 2 copies of a gene, one from every parent. Generally genes are altered, or mutated. Mutated genes could cause cells to develop or act abnormally.

Usher syndrome is inherited as a chromosome recessive disorder. Once 2 carriers with an equivalent mutated Usher syndrome gene have a child along, every birth has a:

  • One-in-four likelihood of getting a child who neither has Usher syndrome nor is a carrier.
  • Two-in-four likelihood of getting a child who is an unaffected carrier.
  • One-in-four likelihood of getting a child who has Usher syndrome.


How is Usher syndrome treated?


Presently, there's no cure for Usher syndrome. Treatment involves managing hearing, vision, and balance issues.
Early identification helps tailor educational programs that take into account the severity of hearing and vision loss and a child’s age and ability.

Treatment and communication services could include hearing aids, helpful listening devices, cochlear implants, auditive (hearing) coaching, or learning sign language.

Vitamin A could slow the progression of retinitis pigmentosa (RP), according to results from a long trial supported by the National Eye Institute and therefore the Foundation Fighting blindness.

Based on the study, adults with a common sort of retinitis pigmentosa (RP) could take pleasure in a daily supplement of 15,000 IU (international units) of the palmitate sort of vitamin a.

Patients ought to discuss this treatment possibility with their doctor before continuing. As a result of individuals with kind one Usher syndrome didn't take part within the study, high-dose vitamin a isn't suggested for these patients.

General precautions for vitamin a supplementation:

  • Do not substitute vitamin a palmitate with a beta-carotene supplement.
  • Do not take vitamin a supplements bigger than the suggested dose of 15000 IU or modify your diet to pick foods with high levels of vitamin a.
  • Pregnant girls shouldn't take high-dose vitamin a supplements due to the accumulated risk of birth defects. Girls considering maternity ought to stop taking high-dose vitamin a supplements for 6 months before attempting to conceive.


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