Patients often ask me “Is macular degeneration hereditary?” or “Does AMD run in families?” The answer to both is emphatically YES! Let me explain…

Hello Everyone, Dr. Steve Ferrucci here talking AMD with Visible Genomics. 

We have known for many years that AMD tends to run in families. In general, if you live to be 80, your chance of getting AMD is about 10%. However, if you have a first degree relative (mother, father or sibling) that chance increases upward to 40%, four times higher than those with no such history. Therefore, it would seem that it is fact hereditary. Other risk factors include increasing age, race, smoking, poor diet, obesity and exposure to sunlight. 

However, now more information is known about genes and genetic markers and their relationship to AMD. More recent research has revealed that the genetic risk for developing AMD is as high at 60%. In fact, more recent work demonstrates that up to 70% of AMD risk is attributable to genetic variation, while the remaining 30% has to do with environmental factors, such as smoking and poor diet. Large genome-wide studies have identified nearly 30 genes associated with the risk of AMD development. Variants in two genes have been shown to be most closely connected to developing AMD as well as its progression to the advanced stage.  The first of these genes, and perhaps the most important, is CHF, which is associated with the complement system and regulates inflammation.  The second most important gene that seems to play a role is the ARMS2/HTRA1 gene. It is unclear what exact role this gene plays, but there is a rather strong connection to AMD development as well as progression. Other genes associated with AMD are involved with lipid metabolism, DNA repair, and protein binding, among others. Further, certain gene variants may have a protective effect against AMD, effectively reducing an individual’s risk for developing AMD.  Exciting research is currently underway that will enhance our knowledge of genetic risk in AMD moving forward. 

Fortunately, macular degeneration testing through Visible Genomics  is now available to test for these genetic variants associated with AMD. Having these variants does not mean you will get AMD, but it does increase one’s chances of getting AMD or developing advanced disease in the future. Further, by knowing your genetic risk, patients at higher risk can be more proactive, making sure they address modifiable risk factors, such as smoking and UV protection, as well as following up with their eye care providers for more frequent exams and advanced testing when indicated. Further, in high-risk patients, preventative vitamin therapy may also be indicted. 

So, AMD is in fact hereditary, and while we cannot pick our relatives, we can learn from them. It is important to know our family history, and what genes we inherited from our relatives, as this can lay the foundation for better, more individualized, AMD care. 

Until Next Time…