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Family's Woes Linked to Gene

Posted on: Saturday, 13 November 2004, 12:00 CST

Hearing loss and poor vision are common problems, but the combination -- especially in multiple members of the same family, some in their early 20s and 30s -- is striking. Find another commonality, droopy eyelids, and it seems likely to be a genetic syndrome.

Last year, Dr. Judith Warner, who was treating several members of the same family who had those symptoms, gathered 30 members from four generations together and examined their eyes. She asked for blood samples. And she asked one of her colleagues at the John A. Moran Eye Center, Dr. Kang Zhang, a geneticist and assistant professor of ophthalmology at the University of Utah, to see if he could find the gene responsible for what is informally being called "Beehive syndrome" because of its Utah link.

He found a single gene mutation, shared by those with the syndrome, in about three weeks.

That discovery is now chronicled in the November issue of The American Journal of Ophthalmology.

Patients with Beehive Syndrome have optic nerve degeneration, deafness, drooping of the upper eyelid and loss of eye movement. Eighteen of 30 family members tested had the symptoms and, it turned out, that mutation.

They also have varying degrees of loss. Scott Thatcher didn't think he had the gene at all because although he has droopy eyelids and mild hearing loss -- "I figured that was one too many concerts when I was a kid," he joked -- his vision's pretty good. Especially since he had laser surgery last year. His sister, on the other hand, has significant loss. And his father and most of his aunts and uncles have pretty serious hearing and vision loss as well.

But the genetic test found Thatcher, too, has the mutation, as does his daughter. His other two children were too young to have the genetic testing done.

Across his family's generations are people who can no longer drive or who have severely restricted licenses, many who had eye surgeries and plenty with hearing aids. Some members of his extended family use sign language because of hearing loss that's nearly total. And while not everyone has the syndrome, it has hit enough of them to get the family's attention, Thatcher said. That's one reason so many of them participated in the testing to try to find the gene.

It's not the first time the family's been studied. A paper was written on them 20 years ago, when 23 members of the 96-member clan were found to have the same symptoms to varying degrees. What changed between the studies is the technology to find the gene itself, Zhang said.

Warner, who is an associate professor of ophthalmology and neurology at the U., and Zhang both hope the discovery will lead to some kind of treatment for people who have the gene mutation.

"We have nothing," said Warner. "There's no treatment for the optic nerve problem. With the droopy eyelid, you can have surgery, and with the hearing, you can wear hearing aids. But for the visual loss, there's no treatment. That's why finding the gene may be helpful. Many of the people, in their 60s, are visually impaired to the point of being legally blind."

They'll have to learn a lot more about the mutation to pinpoint a specific treatment. But they already know, she said, that it "seems to be a problem in the powerhouse of the cell."

The gene is important to mitochondria, so affecting mitochondria function could affect the syndrome. Since some of those with the condition have mild vision loss at 60 and others severe loss at 20, the scientists wonder if there are environmental links, such as nutrition. Is something deficient and will providing it reduce damage? Those are all roads that could lead to treatment.

Zhang hopes the research will also encourage eye doctors to "pay attention to the other clinical feature, hearing loss, which is being misdiagnosed." The paper offers convincing evidence, he said, that when there's optic atrophy, questions should be asked about hearing loss.

Along with this family, Zhang's team also examined a family in Belgium with the same symptoms. They too, had the gene mutation.

E-mail: lois@desnews.com

Source: Deseret News (Salt Lake City)

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