Macula Risk Pgx Genetic Testing

Macula Risk® PGx is a combined prognostic and pharmacogenetic DNA test designed to determine a patient’s risk of progression to advanced Age-related Macular Degeneration (AMD) and aid in the selection of appropriate eye vitamin formulations for AMD based on his or her individual genetic risk profile.

Age-related macular degeneration (AMD) is the leading cause of blindness for people over the age of 55 in the Western World. Currently, more than 30 million Americans have some form of AMD with an additional 2 million new cases each year.

One in five dry AMD patients will progress to wet AMD.  Despite the advent of anti-VEGF therapy which offers wet AMD patients hope for what had been a largely untreatable disease, there is a narrow window of opportunity during which functional vision can be preserved. Several studies have demonstrated that vision preservation correlates strongly with a shorter delay (weeks) between first visual symptoms to treatment.

The importance of early detection and treatment is evident when comparing the treatment outcomes of the first eye that converts to wet AMD versus the second eye. The MARINA study as well as a large retina practice analysis revealed that more than 50% of patients treated for wet AMD (Lucentis®) failed to maintain “Near Normal” vision (20/63 or better) in their first eye following two years of treatment Strikingly, the retina practice analysis found that patients who developed wet AMD in their second eye maintained near normal vision in that eye over 90% of the time. The superior outcome of the second eye is likely attributable to an increased surveillance frequency that occurs during treatment of the first eye, leading to earlier treatment.

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