The Risk and Heritability of Glaucoma

Arpine Barsegian, MD

Glaucoma is considered the leading cause of irreversible blindness globally. It is estimated that more than 3 million people in the United States are currently living with ocular condition.

Furthermore, the National Eye Institute projects that this figure will increase by 58% by the year 2030.

In a joint interview with HCPLive, ophthalmologists Arpine Barsegian, MD, and Mohamed Sharaby, MD, of UCLA Health, discussed issues pertaining to glaucoma, both on the part of the patients and the physicians.

In this segment, Barsegian and Sharaby provide a general overview of the condition, including risk factors and the role of heritability in patients.

More specifically, they highlight at-risk populations and the importance of targeting them for diagnosis as well as specific types of glaucoma, such as pseudoexfoliation glaucoma.

HCPLive: Can you talk about the prevalence of and risk factors associated with Glaucoma?

Sharaby: Glaucoma is basically elevated intraocular pressure that ultimately causes damage and injury to the optic nerve. If that gets damaged, peripheral vision gets lost. Afterwards, if you don't do anything about it, typically your central vision also goes away. Ultimately, you can become blind. 

It's more prevalent in African Americans and Hispanics. So, those are the populations where we really want to get the message out to, because those are the people that actually come in with really bad glaucoma presented to clinics or a university center.

HCPLive: In January, during Glaucoma Awareness Month, JAMA released a review article summarizing risk factors, diagnostic and treatment strategies. It also highlighted the role that heritability may play in at-risk patients. Can you just speak to that idea a bit more?

Barsegian: In run-of-the-mill glaucoma, which is typically more commonly associated with age, we always name family history as a risk factor — if it is a risk factor. 

There's also a category that we call 'glaucoma suspect,' where, for whatever reason, there's something in the exam or something like family history. This keeps us cognizant and forces us to watch over the patient very closely to make sure they don't develop glaucoma.

There are also other types of glaucoma. For example, pseudoexfoliation glaucoma — which seems to be related specifically in Scandinavian countries as well as Eastern European countries. One of our advisers always tells us that as soon as a Eastern European patient walks in, assume pseudoexfoliation glaucoma until proven otherwise.

So, there is a genetic association with pseudoexfoliation glaucoma that is not necessarily 100%. There is 1 specific gene called LOXL1 that's been discovered in relation to that. However, we don't do genetic testing for these patients, even if we clinically believe they have pseudoexfoliation glaucoma.

HCPLive: Are you aware of any new or recent research in this domain?

Barsegian: I had a young patient yesterday who I just diagnosed with glaucoma who told me that she was reading an article from Harvard Medical School about stem cell therapy for optic nerves. That's how they're actually trying to regenerate the optic nerve. 

They're hoping that within a few years they could potentially begin in clinical research with humans. I think right now they're doing it in mice.

That's always been the hope and the dream in glaucoma. Once a patient has glaucoma and has had vision loss, the most we can do is preserve what they have left. We can never reverse what they've lost.

So, theoretically, if we could regenerate the optic nerve, we could probably reverse any vision loss they have as well. That would completely revolutionize treatment in glaucoma.

Sharaby: There have been some advances made in the retina world. So, I think glaucoma and nerve rejuvenation and regeneration is not that far behind.