Cookies

Like most websites The Ophthalmologist uses cookies. In order to deliver a personalized, responsive service and to improve the site, we remember and store information about how you use it. Learn more.
Subspecialties Glaucoma

Rough and Ready

After sequencing the protein-coding genes of more than 20,000 participants from 14 countries across Asia, Europe, and Africa, researchers believe they have discovered a functionally defective gene associated with the most common cause of glaucoma: exfoliation syndrome. Patients with the systemic disorder, characterized by a progressive accumulation of abnormal protein material, were twice as likely to carry damaging mutations in the gene encoding for CYP39A1 – an enzyme that plays an important role in cholesterol processing. The findings suggest that defective CYP39A1 function is strongly associated with increased risk of exfoliation syndrome. Why? Researchers hypothesize that, because cholesterol is found abundantly in all cells, any disruption to its processing could adversely impact normal functions. In this study (1), epithelial cells responsible for the aqueous humor were most affected by the mutation, with disruption ultimately leading to leakage of exfoliative material.

Subscribe to The Ophthalmologist Newsletters

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].

  1. A*Star (2021). Available at: https://bit.ly/3bgaW81.

About the Author

Phoebe Harkin

Associate Editor of The Ophthalmologist

I’ve always loved telling stories. So much so, I decided to make a job of it. I finished a Masters in Magazine Journalism and spent three years working as a creative copywriter before itchy feet sent me (back)packing. It took seven months and 13 countries, but I’m now happily settled on The Ophthalmologist, where I’m busy getting stuck into all things eyeballs.

Related Case Study

Finding Ocular Surface Inflammation

| Contributed by Quidel

Product Profiles

Access our product directory to see the latest products and services from our industry partners

Here

Register to The Ophthalmologist

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:

  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Ophthalmologist magazine

Register