Genetic Age Related Macular Degeneration (AMD) Testing

August 5, 2014

Are you at risk of developing Age Related Macular Degeneration (AMD)? We are pleased to introduce a new way to detect the risk of developing AMD in patients at EyedeologyTM.  If there is a family history of age related macular degeneration be sure to let us know so we can do a quick and easy genetic test called Macula Risk PGx. We can then advise diet, monitoring of the eyes and specific vitamins for individual patients that will prevent the progression of the disease.

AMD is the leading cause of vision loss and blindness in people over the age of 50. It is a progressive disease that can destroy central vision, which can affect every day tasks such as reading, driving, or watching television. The incidence rates of AMD increases from 1 in 10 people over the age of 60 to more than 1 in 4 people over the age of 75. The statistics reveal that 1 in 5 dry AMD (early signs of AMD) patients will progress to wet AMD (more advanced stages of AMD), which can have a damaging effect on functional vision. There are a number of factors that increase the risk of developing AMD. The genetic risk is 60%, so having a first degree relative (mother, father, brother, sister) with AMD may significantly increase the risk of developing the disease.

The importance of early detection and treatment is evident when comparing the treatment outcomes of the first eye that converts to wet (a more advanced form) AMD verses the second the eye. Studies found that patients who developed Wet AMD in their second eye maintained near normal vision due to increased monitoring that occurred during treatment of the first eye, leading to earlier treatment.

It is estimated that up to 70% of AMD risk is a attributable to genetic variation. The test ‘Macula Risk PGx’s analyzes 15 AMD associated genetic variants in 12 different genes. These genes are present across four biological pathways known to be involved in AMD pathogenesis: the compliment system (CHF, C3, CF1, C2 and CFB), cholesterol metabolism, extracellular matrix remodeling and oxidative stress. All of the genetic markers in Macular Risk PGx have been validated in at least four independent publications involving tens of thousands of subjects. Macula risk has been shown to have a 10-year predictive accuracy of 89.5%.

Macula Risk PGx is recommended for patients with signs of the disease (drusen- age related changes at the back of the eye, early, intermediate or advanced AMD) in at least one eye. What is involved in this genetic risk test? A simple quick and easy cheek swab, which takes a sample of PGx’s DNA. We then send the results to our lab, and within four weeks we receive the results. Once results are received, we schedule a follow up appointment with the patient, and go through and interpret the results with each patient. We then discuss the patients increased risk of progression and determine if patients benefit from the following:
1. More frequent eye examinations for high risk patients
2. Educate the patient more on AMD and routine Amsler Grid testing
3. Preventative eye vitamin therapy

The genetic testing kit can also provide us with information of vitamin selection called Vita Risk, which is not solely based on high risk AMD patients. This portion of the test is a pharmacogenetic analysis and is available as part of the macula Risk PGx test, which specifically selects appropriate eye vitamin formulations. The patient’s optimal vitamin formulation depends upon the presence and number of AMD risk alleles and genes.

AMD is a disease that involves genetics, lifestyle and environmental factors. Macular Risk PGx is a combined prognostic and phamcogenetic DNA test which determines a patient’s risk of progression to advanced age related macular degeneration and enables us to select appropriate eye vitamin formulation for AMD based on the patients individual genetic risk profile. So drop in the Eyedology Eye clinic today and come and ask our about or new genetic AMD test…Remember early diagnosis and treatment of wet (advanced) AMD can help prevent and save vision loss.


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Dr. Farrah Sunderji, OD