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Doctor finds mutation behind rare disease

SALT LAKE CITY, Nov. 12 (UPI) -- A scientist said studying a Utah family led him to the genetic mutation responsible for a rare disease that causes the loss of sight and hearing.

Dr. Kang Zhang of the University of Utah's John A. Moran Eye Center reported his discovery in the November issue of The American Journal of Opthalmology.

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Zhang examined the members of one family and found 18 of 30 people he screened had symptoms of Beehive Syndrome. The syndrome got its name from its association with Utah, the Beehive State, although it has also been found in an extended family in Belgium.

The components include optic nerve degeneration, deafness, drooping of the upper eyelid and loss of eye movement.

Zhang said the disease may be more common than doctors have thought. He said doctors with patients suffering from optic atrophy should also inquire about hearing loss.

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