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Macula Risk: AMD Genetic Testing

AMD, or Age-related Macular Degeneration, is predominantly an inherited disease. Macula Risk is a prognostic DNA test that identifies individuals who have inherited any of the disease-causing genes. These individuals are at increased risk of vision loss as they age.Macula Risk is a laboratory developed test (LDT) to assess the risk of AMD progression from early or intermediate AMD to advanced AMD, a common eye disorder of the elderly that can lead to blindness.

Macula Risk identifies individuals (1 in every 5 patients) that are at highest risk of vision loss due to AMD. Identifying these patients early allows our doctors to implement a disease management strategy focused on sight preservation.

What is AMD?

Age-related macular degeneration, often called AMD or ARMD, is the leading cause of vision loss and blindness among Americans who are age 65 and older. Macular degeneration is diagnosed as either dry (non-neovascular) or wet (neovascular). Neovascular refers to growth of new blood vessels in an area, such as the macula, where they are not supposed to be. The dry form is more common than the wet form, with about 85 to 90 percent of AMD patients diagnosed with dry AMD. The wet form of the disease usually leads to more serious vision loss.

One in ten people will lose vision from AMD in their lifetime.

How is AMD treated?

While there is currently no cure for either dry or wet AMD, there are new treatments available to help control and diminish vision loss due to this disease. Our doctors may prescribe a healthy diet, lifestyle changes (such as cessation of smoking and wearing UV protecting eyewear), and supplements to help treat dry AMD.

The key to a successful treatment of wet AMD is early detection. Because most people will not notice a visual disturbance caused by wet AMD until it has progressed significantly, our doctors may recommend follow up visits every 3-6 months dependent on many factors to track any progression of AMD. Our doctors refer patients to retina specialists at the first sign of wet AMD for further treatment.

For wet AMD, treatments aimed at stopping abnormal blood vessel growth include FDA-approved drugs called Lucentis, Eylea, Macugen and Visudyne used with Photodynamic Therapy or PDT. Lucentis has been shown to improve vision in a significant number of people with macular degeneration.

Studies show that patients presenting to retinal specialists with vision loss associated with wet AMD have a poor outcome, with only 50% achieving a meaningful improvement in vision. While, those that present prior to vision loss do much better, with 80% having sustained functional vision. Because of this, it is imperative to monitor this condition closely. The new Macula Risk testing allows our doctors to monitor patients based not only on lifestyle and environmental factors, but also on genetic dispositions.