New Genetic Test

New Genetic Test Helps Determine Risk of Macular Degeneration

Residents with a family history of macular degeneration may want to consider a new genetic test that can help determine risk for developing the disease, the leading cause of vision loss and blindness among people age 50 and older.

12237_main_image_1The new genetic test involves a saliva sample which is sent to a lab for analysis with results returning within a few weeks. The test is not yet covered by most insurance plans but may be funded through a health savings program.

Dr. Couvillion is optimistic about this testing,

“If a patient is at increased risk for developing age-related macular degeneration (AMD), they can make immediate lifestyle changes which could impact the occurrence or spread of the disease, including taking vitamins, reducing weight and most important, to quit smoking.” He continues, “Early detection has the potential of reducing the development of visual complications of AMD.”

California Retina Consultants has become a clinical site for the genetic test, called Macula Risk®, which has been developed by Toronto-based ArcticDX with some leading U.S. research laboratories involved. This is the first test to look at multiple genes that predispose someone to the disease. Seventy-five to eighty percent of all AMD has been traced to genes inherited from family members. Couvillion notes, “Macular degeneration has a very high inheritance pattern and this analysis is successful in testing for most of the genes, however there may be other, untested genes that play a part.” In the future, treatments for AMD may be patient specific depending on the genetic defect that they manifest.

Over 15 million people in North America are currently affected by AMD and experts estimate that as the population ages the number of those afflicted will double in the next ten years.

AMD is a progressive disease associated with aging that causes damage to the macula-the light-sensitive cells at the center of the retina at the back of the eye. The macula is responsible for our ability to see with enough detail to read, drive, watch television and perform other activities that require focused, straight-ahead vision, as well as providing information that allows us to perceive colors. Once significant vision is lost, it cannot be restored and, if untreated, AMD can ultimately lead to blindness. The most effective treatment strategy will be to reduce the onset of the late visual threatening complications.

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