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AMD: The Role of Genetic Testing in the Use of Ocular Multivitamin Supplements

Vision Preservation and Your DNA

Age-Related Macular Degeneration (AMD) is one of the leading causes of blindness in North America, due to its progressive disease course and its devastating effects on central vision loss.

AMD is classified into two main categories based on damage to the macular area of the retina as dry AMD, seen in patients with early signs of deposits in the retina, and wet AMD, a later, more aggressive stage of the disease characterized by increases in deposits, new blood-vessel growth, bleeding and macular scarring. Please see our article titled “AMD: The Sneak Thief of Vision” for more information about this condition.
Unfortunately, at the present time there is no cure for macular degeneration; the best strategy for treatment is preservation of existing vision and protection from future progression in both eyes but in particular for the fellow eye.
Known risk factors for developing AMD include smoking, age and body mass index, as well as dietary deficiencies in anti-oxidants and certain vitamins and minerals. Healthy eating and nutrition are important in overall treatment of AMD; please see our article “AMD: Healthy Eating Essential,” for more specific information.
The findings of the Age-Related Eye Disease Study (AREDS), a large, multi-year longitudinal research study, resulted in widespread recommended use of ocular nutritional supplements known as the AREDS-Formulation (AF), which contains both anti-oxidants and zinc to be used by all patients with AMD in an effort to slow the progressive nature of this condition. Early results of AREDS, before genetic testing was available, indicated that such supplements were useful in delaying the progression of AMD from its dry to its wet forms, and delayed damage to vision overall.


Recent studies and re-analysis of the AREDS results show that individuals with certain genetic markers should not be using the AREDS-formulation nutritional supplements because they may actually increase the risk of macular damage (emphasis ours), progression and significant vision loss. More specifically, the addition or removal of zinc to the official AREDS formulation was found to be significant.
A paper by Carl C Awh, MD, Steven Hawken, MSc and Brent W. Zanke, MD, PhD, published online September 5, 2014 in the journal Ophthalmology describes seven-year outcomes analysis of 989 AREDS patients and the impact of genotype on response to AREDS-formulation supplements.
Awh, et al., expanded on an earlier report that was based on the presence of Complement Factor H (CFH) and Age-Related Maculopathy Susceptibility 2 (ARMS2) risk alleles in DNA, revealed by genetic testing as supplied by PGx, the manufacturer of simple mouth-swab DNA collection materials and subsequent typing. Results indicate that using predetermined genotype groups to predict AMD advancement into more severe categories is a valuable tool for decisions about the recommendation of ocular nutritional supplements.

Risk Factor Groups

PGx is a provider of proprietary genetic testing materials which are used to determine the presence or absence of CFH and ARMS2 alleles, so that the genetic risk of advancing AMD and significant further loss of vision might be predicted. For this analysis, the researchers examined genetic risk factors and sorted patients into four groups:

  • Patients with high CFH and low ARMS2 [high-low]
  • Those with low CFH and high ARMS2 [low-high]
  • Patients with low CFH and low ARMS2 [low-low]
  • Patients with high CFH and high ARMS2 [high-high]….

Read more: http://www.drshalupal.com/view/article_479.3conx
Source: Dr. Shalu Pal