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University of Utah Vision Researchers Identify Genetic Cause of Rare Eye Disease in Utah Family

November 11, 2004-Vision researchers at the University of Utah’s John A. Moran Eye Center have discovered a gene mutation responsible for causing a rare disease in four generations of a single Utah family. The discovery is reported in a recent issue of The American Journal of Ophthalmology (November 2004).

The disease, which is informally being called Beehive Syndrome because of its connection to Utah (the Beehive State), causes both vision and hearing loss in patients. Officially, patients with the disease are described as suffering from optic atrophy (optic nerve degeneration), deafness, ptosis (drooping of the upper eyelid), and ophthalmoplegia (loss of eye movement).

The discovery of the gene mutation was made after researchers screened 30 members of a Utah family and found that 18 showed symptoms of the disease. Further study revealed that a single gene mutation was present in each of the 18 family members, according to Kang Zhang, M.D., Ph.D., assistant professor of ophthalmology and visual sciences at the University of Utah.

“The idea behind this research actually came from a 1984 paper that identified symptoms of this disease in 23 members of a 96-member Utah family. After reviewing the original study, we decided this would be great family to follow up on using today’s genetic research techniques. The outcome was remarkable,” said Zhang.

The study involved extensive hearing and vision exams at the University of Utah and genotyping analysis of DNA extracted from blood samples. The age of the family members with the gene mutation range from 11 to 77.

In addition to the Utah family, the Zhang’s team also evaluated a large Belgian family with same symptoms. The same mutation was present in both families.

Zhang expects the study will result in greater numbers of patients being diagnosed with Beehive Syndrome. Specifically, he advocates that ophthalmologists caring for patients with optic atrophy should inquire about possible hearing loss as well. Eventually, he says the findings will be used to develop treatments directed at preventing the vision and hearing loss in patients with the gene mutation.

Two members of the Utah family that the study was based on are willing to speak to media about their condition. For names and contact information, please call Chris Nelson in the Moran Eye Center’s Public Relations Office at 801-587-7693.