Gene mutation responsible for ‘Beehive syndrome’ found

A gene mutation that causes a rare disease involving both vision and hearing loss has been identified by researchers. The gene caused 23 members of a 96-person family in Utah to develop optic atrophy, deafness, ptosis and ophthalmoplegia.

Kang Zhang, MD, PhD, and colleagues in Salt Lake City examined 30 members of a family with a history of the disease. Linkage analysis and mutation screening of the gene known as optic atrophy 1 (OPA1) were performed.

Because of the location of the family in Utah, the Beehive State, the disease is being informally referred to as Beehive syndrome, according to a press release from the John A. Moran Eye Center, where the research was carried out.

Of the 30 family members studied, 18 demonstrated characteristics of the syndrome. The genetic anomaly found in these subjects, who ranged in age from 11 years to 77 years, was not found in 200 normal control patients. Dr. Zhang noted that the same gene mutation in OPA1 was found in a large Belgian family with similar symptoms.

The authors suggest that ophthalmologists treating patients for optic atrophy ask them about possibly related hearing loss.

The study is published in the November issue of American Journal of Ophthalmology.