Usher

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Usher Syndrome

Usher Syndrome (pronounced: /ˈʌʃər/), is a rare genetic disorder that is characterized by a combination of hearing loss and visual impairment. It is named after the British ophthalmologist Charles Usher, who first described the syndrome in 1914.

Etymology

The term "Usher Syndrome" is derived from the name of the British ophthalmologist Charles Usher, who first described the condition in a scientific paper in 1914. The word "syndrome" comes from the Greek "σύνδρομον" (syndromon), meaning "concurrence of symptoms".

Symptoms

Usher Syndrome is characterized by a combination of hearing loss and visual impairment. The hearing loss is usually present from birth and is due to a defect in the inner ear, while the visual impairment is due to retinitis pigmentosa, a progressive disease that affects the retina of the eye.

Types

There are three types of Usher Syndrome, known as type 1, type 2, and type 3. Each type is distinguished by the severity and progression of the hearing loss and visual impairment, as well as the presence or absence of other symptoms.

  • Usher Syndrome type 1: This is the most severe form of the syndrome. Individuals with this type are born with profound hearing loss and begin to experience vision problems in early childhood.
  • Usher Syndrome type 2: Individuals with this type are born with moderate to severe hearing loss and begin to experience vision problems in adolescence or early adulthood.
  • Usher Syndrome type 3: This is the least common type of Usher Syndrome. Individuals with this type are born with normal hearing and vision, but begin to experience hearing and vision problems in adolescence or early adulthood.

Treatment

There is currently no cure for Usher Syndrome, but there are treatments available to manage the symptoms. These include hearing aids and cochlear implants for the hearing loss, and various therapies to slow the progression of the retinitis pigmentosa.

See also

External links

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