Gene may be a cause of glaucoma

FARMINGTON, Conn. — A gene that causes open-angle glaucoma has been identified by researchers here at the University of Connecticut. The optineurin gene, located on chromosome 10p14, has been dubbed OPTN.

A 54-family study found sequence alterations in OPTN in 16.7% of families with hereditary primary open-angle glaucoma, including individuals with normal IOP. Mansoor Sarfarazi, PhD, and colleagues have determined that the optineurin gene is expressed in the trabecular meshwork, nonpigmented ciliary epithelium, retina and brain. They speculate that the gene may play a neuroprotective role, Dr. Sarfarazi said.

The researchers studied 54 families with autosomal dominant adult-onset glaucoma with at least one member having normal-tension glaucoma. The majority of these families presented with normal IOP, less than 22 mm Hg, while others had mixed clinical pictures of both normal and moderately raised IOP, from 23 to 26 mm Hg, in the same family.

According to the investigators, the study data suggests mutations in OPTN may be responsible for 16.7% of hereditary forms of normal-tension glaucoma with an additional attributable risk factor of 13.6% in both familial and sporadic cases.

The study is described more fully in the March 15 issue of Ocular Surgery News. For more on the research, click here to read the OSN article online.