Could Genes Be Responsible for Vision Loss?

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Age-related macular degeneration (AMD) is one of the leading causes of vision loss in older adults in North America. It’s a deadly condition that leads to the deterioration of the retina, which is an important part of the eye that you need in order to see. But what causes AMD besides environmental factors? According to two new studies a major culprit could be hidden in your genes.

 The two new reports, both published in the September edition of the medical journal Nature Genetics, AMD gradually reduces a person’s vision by affecting the retina; it’s a degenerative disease that often occurs slowly over a period of time. It’s believed that your risk of developing AMD is increased by age as well as both genetic and environmental factors.

 In the past, previous studies pinpointed a genetic variant of a protein known as “complement factor H” (CFH) as contributing to a person’s increased risk of developing AMD. However, the two new studies have found that other variants to the CFH gene also come into play when looking at a person’s risk of developing macular degeneration.

 The lead researcher of the first study, Goncalo Abecasis, associate professor of biostatics at the University of Michigan, noted “We took a very detailed look at a gene that had previously been identified as involved in AMD. We found there were many variants of the gene that could increase the risk of AMD — some with very large effects.”

 In the first study, researchers looked at gene variants that were associated with the deadly CFH gene and found that it was tied to a higher risk of AMD occurring. The team looked at 726 people who had AMD and 268 people who didn’t while examining the variants.

 What they discovered was that the variants tied to the CFH gene did indeed contribute to a higher risk of AMD, even though these variants didn’t alter a critical protein, which is typically a sign of gene-induced AMD. The researchers also discovered that having multiple variants upped a person’s risk for AMD as well.

 This finding was interesting to note, as the variants didn’t seem to have an obvious impact on the protein, which could provide researchers with a more accurate way of finding out a person’s specific risk for developing the condition. What’s more, the discovery could lead to new treatment options for AMD, as well as a means for reducing risk factors.

 In the second study, out of Massachusetts General Hospital, researchers looked at the causes of specific AMD cases and discovered that a variant of CFH influenced the possibility of AMD occurring. In the study, the variant seemed to have no tie to the CFH protein, where over 1,200 people with the condition — and 900 without — were examined for the link.

 The researchers in this study also found and confirmed links between the disease and variations in the genes, which increased a person’s risk of developing AMD. According to the researchers, there are officially three genes that are related to the upped risk of developing AMD.

 Thanks to the new findings, researchers can now start to look at a person’s individual risk of developing AMD based on their genes, which can help in the prevention and treatment of the condition.

 Taking preventive measures is still the best way to fight against AMD, noted the researchers, where the new findings from both studies will help arm health professionals with a new means of catching onto a person’s risk for the disease early before any damage starts.