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Update on Macular Degeneration Research

New Genetic Clues to Macular Degeneration Identified
An international study of 43,000 people significantly expands the number of genetic factors known to play a role in age-related macular degeneration (AMD).  Supported by the National Eye Institute, the findings allow a better understanding of the biological processes that lead to AMD, and identify new therapeutic targets for potential treatment.

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Macular degeneration is caused by a combination of genetic, environmental and lifestyle risk factors.  For example, smoking increases the risk of damage to the macula, while eating leafy greens and fish, such as salmon, halibut, and tuna, may reduce the risk.

Up to this point, researchers had identified 21 regions of the genome, called loci, that influence the risk of AMD.   Now a total of 52 genetic variants are known that are associated with AMD.  The new research was published in the Dec. 21, 2015 online edition of Nature Genetics.   Researchers also identified a variant specific to the neovascular, or wet, form of AMD, which may point to reasons why therapy for this form of AMD is not effective not everyone.

Wet macular degeneration is responsible for significant loss of central vision and, if caught early, can greatly benefit, though not cured, from treatment with a class of injectable medications, known as anti-VEGF.  There are currently no Food and Drug Administration-approved treatments for the more common form of advanced AMD, called geographic atrophy or “dry” AMD.


The International AMD Genomics Consortium, “Insights into Rare and Common Genetic Variation from a Large Study of Age-Related Macular Degeneration,” Nature Genetics, online December 21, 2015. DOI:10.1038/ng.3448

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