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Glaucoma and Genetics: Is DNA the Key?

Today, glaucoma is diagnosed when a patient has suffered enough optic nerve damage to notice diminished side vision or, if we’re lucky, when an astute examiner recognizes glaucoma changes during optic nerve examination.

By this time many of the optic nerve fibers have been lost and treatment is directed at assuring that no further damage occurs. Typically, we treat most forms of glaucoma with the same non-specific regimen of eyedrops, lasers and surgery. The treatment is not directed at correcting the optic nerve damage because we don’t know how to treat the nerve directly. Instead we lower the eye pressure—the one risk factor that we can treat. Thankfully, we successfully keep most glaucoma patients seeing for their lifetimes.

A Different Scenario

But, imagine a different scenario. A young child has a cotton-tipped swab rubbed on his or her inner cheek. A laboratory test tells the ophthalmologist that the child is at risk for developing a particular form of glaucoma. A specific medication is begun to correct the defective metabolic pathway. The optic nerve fibers are protected and the disease does not develop. I believe that this second scenario will come to pass through the study of molecular genetics.

Your DNA holds the key to determining most things about how you will ultimately develop—how tall you will be, how big your nose will be and what diseases you will battle. If we can determine which sections of DNA are responsible for the development of glaucoma then we will have substantially more power over the disease.

We have learned a great deal about glaucoma genetics over the past decade and the Glaucoma Research Foundation has been instrumental in supporting laboratories such as ours in the search for these answers. To date nine DNA regions (loci) that harbor open angle glaucoma-causing genes have been identified. For three of these locations the disease-causing genes (myocilin, optineurin and WDR36) have been identified.

As these genes are discovered, the pathways that they are parts of will be understood and targeted interventions can be developed. Each genetic discovery is a piece of the puzzle that is glaucoma. Through solving this puzzle we will develop improved tests and treatments that may one day eliminate the world’s leading cause of irreversible blindness.


Article by Wallace L.M. Alward, MD, professor and vice-chairman of Glaucoma Service at the University of Iowa. The main focus of his research over the past decade has been the molecular genetics of glaucoma. Dr. Alward serves on the editorial boards of the American Journal of Ophthalmology and the Journal of Glaucoma.

Last reviewed on October 29, 2017

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