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Genetic Testing for Macular Degeneration


Age-related macular degeneration (AMD) is the leading cause of vision loss in people over the age of 50 in the US.  It is a disease of the retina.  The retina is a layer of light-sensing cells lining the back of your eye.  This condition damages a portion of the retina called the macula, which is located in the center of the retina and enables you to see fine details clearly.  You rely on your macula whenever you read, drive, or do other activities that require you to focus on fine details.  Some people with AMD may lose the ability to perceive fine details both up close and at a distance.  The side vision is usually not affected, as AMD usually affects only the central vision.


There are two types of AMD.  About 90% of people with AMD have the “dry” form of AMD, which develops when the tissues of the macula grow thin with age and debris accumulates behind the retina.  About 10% of people with AMD have the “wet” form of AMD.  With wet AMD, abnormal blood vessels grow underneath and into the retina.  These unhealthy vessels leak blood and fluid, which can scar the macula.  Vision loss in the wet form can be rapid and severe.


Most forms of AMD are caused by a combination of a genetic susceptibility and the environment around the person, such as the person’s diet or history of smoking.  The medical community is now starting to understand more about the genes involved in genetic susceptibility.  A gene is a part of your DNA that codes for certain traits, such as eye color.  A gene also codes for different proteins involved in the function of the cells in your body and in your retina.  There are possibly thousands of genes involved in the susceptibility of many different types of AMD.


There are some ways to test for a handful of the thousands of genes involved in susceptibility to AMD.  Some of these tests are commercially available, and provided by our office.  Many insurance companies cover the cost of this testing.  For some patients with certain types of AMD, we may collaborate with the National Institutes of Health (NIH) to provide some gene testing.


However, not all testing is appropriate for all patients.  Testing may not provide any tools for managing your condition or preventing its progression.  Be sure to see your eye doctor to find out if testing is right for you.  Other treatment options and lifestyle interventions may also be available for you.  Because early AMD often has no symptoms, if you are at risk for AMD you should have your eyes examined regularly by an eye doctor.


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