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John Daley Reporting One Utah family has some new hope thanks to the wonders of modern science. Researchers at the U of U's Moran Eye Center have identified the genetic cause of a disease that can cause eye and hearing loss. Many family members have it, but now there may be new treatments, on the horizon.
Consider a wedding photo with the grandfather, Roy Thatcher. Six of the eight people in the picture lost some or most of their hearing and eyesight, a condition that was passed on to 43-year-old Dan and Alta, now 69.
Scott, who suffers from drooping eyelids, says the disease has had a huge impact on his family.
Scott Thatcher: “Oh yeah, definitely. It’s made it hard to communicate and they’ve needed a lot of help to get by and communicate with.”
Researchers at the Moran Eye Center screened 30 members of the Thatcher family and discovered 18 showed symptoms of the disease, which include optic nerve degeneration, deafness, drooping of the upper eyelid and loss of eye movement. Further study revealed a single gene mutation was present in each of the 18.
The disease, which the center first began researching 20 years ago, was given the name "Beehive Syndrome." The man leading the research, Dr. Kang Zhang, calls the discovery a real breakthrough.
Dr. Kang Zhang, Asst. Prof. of Ophthalmology: “We certainly are very pleased to be able to find this gene mutation as well as to help the family.”
Dr. Zhang says genetic research show great promise in Utah because of our large families and superior genealogical records. Eventually the hope is that research could unlock the secrets of common diseases like glaucoma, heart disease and stroke.
The Thatchers, including 12-year old Holly who has no symptoms yet, are cautiously optimistic.
Holly Thatcher: “I hope when I get married and have kids that they won’t get it.”
Scott Thatcher: “I just hope they can some day find a cure.”
…One that would reverse the symptoms for those who have it and prevent the others from developing it.
Dr. Zhang suggests ophthalmologists caring for patients with optic atrophy should ask about possible hearing loss as well. Eventually he hopes his findings will lead to a treatment aimed at preventing the vision and hearing loss in patients with the gene mutation.