Findings: Researchers, including BrightFocus-funded Yutao Liu, M.D., Ph.D, have linked two genetic mutations to normal-pressure glaucoma (NPG), a type of open-angle glaucoma that does not result in increased eye pressure. Not much is known about how patients with NPG have increased susceptibility to optic nerve degeneration. A side result from the study found that these genetic variants also are associated with exfoliation glaucoma, a type of glaucoma in which abnormal deposits can cover the lens or block the eye's drainage system.

The results of this study were reported online in the open-access journal, PLoS Genetics.

Significance: The researchers' identification of genes responsible for NPG was a large step toward understanding this type of glaucoma. The proteins expressed from these genes may interact with another protein already linked with glaucoma, called transforming growth factor beta (TGF-beta). TGF-beta controls cell growth and survival throughout the body.

In the future, these two genetic mutations could be used for developing gene-based disease detection and treatment. Also, therapies targeting TGF-beta to prevent optic nerve cells from dying could be effective for multiple forms of glaucoma.

• Press release from the Massachusetts Eye and Ear Institute
• Original scientific paper
• BrightFocus’ National Glaucoma Research supported this research through a grant to Dr. Yutao Liu

BrightFocus currently funds a number of co-authors, including Dr. Jonathan Haines to look for genetic associations with age-related macular degeneration (AMD) in the Amish, Dr. Margaret Pericak-Vance to search for genetic links in Alzheimer's disease and in age-related macular degeneration, Dr. Donald Zack to screen for AMD protective drugs, and Dr. Joel Schuman to visualize the fluid flow in the front of the eye in glaucoma. Former grantees are Drs. Kang Zhang and Douglas Vollrath. R. Rand Allingham is an advisor on BrightFocus’ National Glaucoma Research Scientific Review Committee.