Researchers Find Genetic Link to Severe Form of Glaucoma

Angle-closure glaucoma (ACG) is a severe form of glaucoma in which intraocular pressure can build quickly and damage the optic nerve. Unlike the more common open-angle glaucoma, which progresses slowly, ACG can strike quickly and is a medical emergency; without prompt attention, rapid vision loss can occur.

Although ACG is treatable via various means, including laser surgery and eye medication, the foundation of the condition itself is still being studied and understood. Recently, researchers at the Jackson Laboratory—a nonprofit biomedical research institution—discovered a gene linked to the development of ACG.

Patients with ACG often have physical characteristics of the eyes that predispose their eyes to blockage of ocular fluid. When the fluid cannot drain properly, it can dramatically spike your intraocular pressure (IOP) and cause severe eye pain, nausea, headaches and blurred vision.

The Jackson Laboratory study revealed that the cause of IOP elevation was due to more than blockage by the iris. Researchers identified a strain of mouse with a genetic mutation that generates similar ocular features to those in ACG patients; these mice also develop high levels of IOP.

Researchers further found that the mutated gene could cause variations in axial length, including a dramatic reduction in axial length in people with hyperopia (farsightedness). In mice, this genetic mutation produces a protein that in turn breaks down other proteins within the eye. The research yielded the first connection between this protein and ACG.

The study may pave the way for future methods of early ACG detection, including identifying additional risk factors, and help reveal additional ways in which ACG can be treated.

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