Usher Syndrome Gene Study Results Revealed


Researchers in Germany have revealed the results of a study into Usher Syndrome – a genetically inherited condition that can cause vision and hearing loss. Specialists at the University of Cologne have discovered that the syndrome is caused by the mutation of two separate genes – scientists had previously described the condition as a single gene disorder. Experts hope that the findings can be used to help develop future treatments for the disease.

People with Usher Syndrome are likely to be diagnosed with retinitis pigmentosa – a progressive eye disease that degrades vision quality by affecting light-sensitive retinal cells. However, the study showed that family members with Usher Syndrome were likely to experience different degrees of vision loss despite their genetic similarities.

Usher Syndrome is thought to be responsible for up to 50% of instances of deaf/blindness in adults worldwide. There is currently no treatment for the genetic disease. Researchers hope that their findings can be used to better diagnose the disease and to develop a gene therapy treatment in future.

12th June 2010

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