Identification of glaucoma gene brightens view for future therapies

Glaucoma – a leading cause of vision loss and blindness worldwide – runs in families. A team of investigators from Vanderbilt University and the University of Florida has identified a new candidate gene for the most common form of the eye disorder, primary open angle glaucoma (POAG).The findings, reported Feb. 17 in the open-access journal PLoS Genetics, offer novel insights into glaucoma pathology and could lead to targeted treatment strategies.

Elevated pressure inside the eye is a strong risk factor for POAG. Pressure increases because of increased resistance to the flow of aqueous humor out of the eye's front chamber (between the cornea and iris). Current treatments for POAG attempt to reduce intraocular pressure by reducing aqueous humor production or by surgically providing a clear "drain." It has been known for decades that the reason the pressure goes up in POAG is because the outflow pathway for aqueous humor is not working. It seems kind of simple – there's a decrease in the rate of aqueous humor flowing out of the eye. The basic mechanisms of aqueous humor outflow at the cellular and molecular level – and how they are disrupted in glaucoma – are not understood. It's a long-standing puzzle in ophthalmology.

So far, three genes have been associated with human glaucoma, but they account for only a small fraction of cases and have not shed much light on the disease process. The Vanderbilt investigators turned to a model with simpler genetics – a canine model of the disease.

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