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Usher Syndrome

Usher Syndrome. By Andy Beer. What is Usher Syndrome. Usher Syndrome is a genetic disease on witch you lose the ability to hear and see.

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Usher Syndrome

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  1. Usher Syndrome By Andy Beer

  2. What is Usher Syndrome • Usher Syndrome is a genetic disease on witch you lose the ability to hear and see. • The major symptoms of Usher Syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina. The retina is a light-sensitive tissue at the back of the eye and is crucial for vision. As RP progresses, the field of vision narrows—a condition known as “tunnel vision”—until only central vision (the ability to see straight ahead) remains.

  3. This is a photograph of the retina of a patient with Usher Syndrome (left) compared to a normal retina (right). The optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, called bone spicules (double arrows).

  4. What Research is Being Conducted on Usher Syndrome? • Researchers are currently trying to identify all of the genes that cause Usher Syndrome and determine the function of those genes. This research will lead to improved genetic counseling and early diagnosis, and may eventually expand treatment options. • Scientists also are developing mouse models that have the same characteristics as the human types of Usher Syndrome. Mouse models will make it easier to determine the function of the genes involved in Usher Syndrome.

  5. Genetic Facts • Usher Syndrome is transmitted genetically by an autosomal recessive gene. To produce a child with Usher Syndrome both parents must carry the recessive gene. Autosomal implies that the gene is not sex linked and so both males and females are equally affected by the condition. In recessive inheritance both parents carry the gene, but are not aware that they are carriers until the condition is diagnosed in their children. The child with Usher Syndrome has two recessive genes for the trait and will transmit these genes to their offspring.

  6. Information From… • http://www.nidcd.nih.gov/health/hearing/usher.htm • http://www.deafblind.com/usher.html

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