Download andybushersyndrome

yes no Was this document useful for you?
   Thank you for your participation!

* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project

Document related concepts

Neurogenomics wikipedia , lookup

Biology and consumer behaviour wikipedia , lookup

List of people with locked-in syndrome wikipedia , lookup

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.
• 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.
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).
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.
Genetic Facts
• Usher is transmitted genetically by an autosomal
recessive gene. To produce a child with Usher
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.
Information From…