Genetic Risk Factor Discovered for Macular Degeneration

A discovery by researchers has identified a new genetic risk factor for the development of age-related macular degeneration.  The discovery of this new gene was made by Kang Zhang, M.D., Ph.D., director of ophthalmic genetics and associate professor of ophthalmology and visual science, Moran Eye Center, University of Utah, Salt Lake City, and may indicate a genetic marker with a strong correlation in patients diagnosed with the eye disease macular degeneration.

Patients found to have the new gene known as HTRA1, were more likely t develope age-related macular degeneration.  In fact, the chances of developing the eye disease if the genetic marker was present was approximately 8 times greater than those without the marker.  The discovery was made by examining approximately 600 macular degeneration patients and 300 control patients without the eye disease.

By isolating the genetic marker, researchers were able to demonstrate the strongest correlation in those patients with macular degeneration.  Those patients with the genetic marker were found to have a higher level of the HTRA1 protein.  This was also found in drusen, deposits on the retina which are typically associated with the onset of dry macular degeneration.

What does the discovery of this genetic marker mean for patients who are at a higher risk of being diagosed with the eye disease macular degeneration?

The discovery of this gene could lead to the development of a simple blood test to identify high risk patients.  It would allow doctors to assess the risk of people in high risk categories and provide early prevent or early treatment for macular degeneration.  Patients could be monitored earlier and more frequently than the general population, and could be treated with antioxidants and nutritional supplements to lower their risk of developing macular degeneration.  Early intervention and treatment could help reduce the progression of macular degeneration.

Disovering this genetic marker could also lead to new macular degeneration treatment options where new drugs can be used to target HTRA1.  This may open new avenues for macular degeneration treatments as well as complementary treatments that target other risk factors seen to contribute to the eye disease.

According to Dr. Zhang, “I’m sure that there will be a lot more attention focused on this gene for years to come and maybe new drugs will come out of this.”

Research into the genetic marker for macular degeneration continues.