Subscribe to Newsletter
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.

Receive content, products, events as well as relevant industry updates from The Ophthalmologist and its sponsors.

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].
If you wish to unsubscribe, you can update your preferences at any point.

  1. A*Star (2021). Available at:
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 Studies
Business & Profession Glaucoma
TrabEx Pro: The Next Level in MIGS

| Contributed by MST

Finding Ocular Surface Inflammation

| Contributed by Quidel

Product Profiles

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

Most Popular
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



The Ophthalmologist website is intended solely for the eyes of healthcare professionals. Please confirm below: