Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.
It is estimated that 8 percent of people around the world have signs of age-related macular degeneration. The condition currently affects about 11 million Americans and 170 million people worldwide, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increases.
Age-related macular degeneration is a chronic eye condition that commonly leads to vision loss in seniors, making it a leading cause of blindness in the aging population. Understanding age-related macular degeneration is important, not only because of its growing impact, but also to help people recognize early warning signs, reduce risk through healthy lifestyle choices, and explore available treatments that can slow its progression and preserve vision for as long as possible.
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Age-related macular degeneration or AMD, is an eye disease that slowly damages a part of the eye called the macula. The macula is located in the center of the retina, the light-sensitive layer at the back of your eye ball, and it’s responsible for your central vision; the sharp, clear vision you need to read, recognize faces, and see fine details as well as colors.Â
When the macula becomes damaged, your central vision gets blurry or distorted. You might still have side peripheral vision, but the center of what you see may look blurry, wavy, or even dark. Over time, this can make it hard to do everyday things like reading or doing something more detailed.Â
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The exact cause of age-related macular degeneration (AMD) is not fully understood, but researchers agree that it develops due to a mix of genetic predispositions and environmental influences. This means that while some people may inherit gene variants that increase their risk, lifestyle and health factors also play a significant role in whether the disease develops or worsens.
GWAS have helped scientists discover that genetics plays a major role in age-related macular degeneration. These studies look at the genes of thousands of people to find patterns. So far, research studies have found over 30 genes that may be involved in increasing a person’s risk of developing AMD.
Two genetic areas have shown the strongest link to AMD. One contains a group of immune system genes called the complement cascade, found on chromosome 1. The other involves the ARMS2 and HTRA1 genes on chromosome 10. The complement system normally protects the body by attacking harmful bacteria and viruses. But in some people, it may overreact and mistakenly damage healthy cells in the retina. This can lead to inflammation and vision loss. This is why many scientists believe that inflammation is one of the main causes of AMD.
Researchers aren’t exactly sure how the ARMS2 and HTRA1 genes work, but they do know these genes are closely tied to both the development of AMD and how quickly it gets worse. It’s important to understand that having these genetic changes doesn’t mean you will definitely get AMD. It simply means your risk is higher. On the other hand, some people may have gene variants that actually protect them and lower their risk of getting the disease.
The Population Architecture Using Genomics and Epidemiology (PAGE) study showed that the genetic risk markers for age-related macular degeneration (AMD) vary among different ethnic groups, such as Mexican Americans, Asian Americans, African Americans, and non-Hispanic White Europeans. For example, major risk variants in genes like ARMS2 and CFH, which are common risk factors in White Europeans, were not significant in non-European populations. Similarly, a research study in East Asians found different genetic variants related to cholesterol and lipid metabolism that affect AMD risk, and these variants interacted with factors like high HDL cholesterol levels.
These findings highlight that genetic risk for AMD can differ greatly between ethnic groups. However, these differences don’t fully explain why some populations have lower rates of AMD. In some groups, protective genetic variants may play a bigger role. For example, in Timor-Leste, AMD is very rare, and although the risk allele of the HTRA1 gene was at a significantly higher frequency in the Timorese, people there often carry protective gene variants of CFH and other genes, rather than all the typical risk variants seen in other populations.
This shows that protective gene variants might be just as important, or even more important, than risk genes in determining who develops AMD. To better understand these differences, future studies need to look at both genetics and environmental factors across diverse populations. This knowledge will be essential for developing personalized medicine approaches that work for each one of us.
You can’t directly inherit AMD like some other diseases, but it may run in families due to many of the same inherited genetic variants. If a parent or sibling has it, your risk is higher. About 15 to 20 percent of people with age-related macular degeneration have a close relative who also has it.Â
Diagnosing age-related macular degeneration typically involves a comprehensive eye exam performed by an optometrist or ophthalmologist. Since AMD often develops slowly and may not cause noticeable symptoms at first, regular eye exams are important especially for adults over the age of 50 or those with a family history of the disease.
Early diagnosis of AMD is important because it allows for timely treatment and lifestyle changes that may slow the disease and protect your vision. If you experience any changes in vision such as blurriness, distortion, or dark spots, schedule an eye exam as soon as possible.
Although there is currently no cure for age-related macular degeneration, there are treatments that can slow its progression, preserve remaining vision, and reduce the impact on daily life, especially if the condition is caught early. Here are some steps to protect your vision: