Genetic Testing for Macular Degeneration

Macular degeneration is a prevalent disease that is becoming more so with the aging population.  9.1 million Americans have macular degeneration today.  A common question of patients is whether they should have a genetic test to determine if they are going to have macular degeneration or if their macular degeneration will progress to the advanced stage.

There are several companies that now offer genetic testing for macular degeneration.  The tests examine certain genes that have been linked to macular degeneration such as complement factors, metabolic genes, energy metabolizing genes, extracellular matrix pathway genes. Then, the patient is stratified into categories based on the combination of their genes.  Often, the testing is covered by insurance companies.  However, the question is whether there is any benefit to the testing.

The American Academy of Ophthalmology recently addressed this question in a statement.  Their position is that genetic testing for macular degeneration is NOT recommended.  The position of the Academy is that screening exams are more productive for a patient than a genetic test that may or may not accurately predict the risk of AMD. Specifically, they state that "Although several genotypes are associated with increased risk for AMD, at this time, genetic testing provides no proven advantage in preventing or treating the disease."  The Academy does suggest that in the future, treatments might be targeted based on genetic typing, at which time the testing would become valuable, but for now no such treatments exist.  However, some argue that if a patient is high risk then he or she should have more frequent screenings to catch a neovascular membrane sooner.  Currently, there are no studies that show more frequent screening in genetically high risk patients to be helpful.

Some patients do still chose genetic testing for macular degeneration for their own knowledge.  This is certainly an option for such patients.  However, even with a low risk score, patients should continue to undergo regular screening exams. 


If you have questions about genetic testing and macular degeneration, consult your eye care professional.


This blog is for informational purposes only and is not intended to be medical advice. Please consult an eye care professional.