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Steven G Pratt, Stuart P Richer, Blake Perry, Dan Roberson, Grant Rutledge, Gunilla Pratt, Carla Podella; Scripps Memorial Hospital/Mericos Early Biomarkers of AMD (EBAMD) Study - Foveal Macula Pigment Depression Data and Analysis: IRB-11-5677. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5239.
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© ARVO (1962-2015); The Authors (2016-present)
Children of AMD patients have a 45% lifetime risk of developing AMD. EBAMD evaluates baseline genetic risk against a battery of potential epigenetic serum, nutritional & exploratory sub-clinical biomarkers in children of AMD parents. In 2013 we reported our baseline data demonstrating borderline high saturated fat and cholesterol. We have now enrolled additional subjects and report our findings concerning the central macular pigment (MP) “foveal dip” phenomenon reported to occur with greater frequency with aging, in smokers and patients with AMD.
n=78 subjects (56 F / 22 M) age 61.2 SD 8.5 yrs , non-smoking, affluent adults living in southern California. GENETIC ANALYSIS: Buccal swab categorized for total risk & lifetime risk using a 4 genotype CFH, C3, ARMS2 & MT-ND2 4 SNP DNA array (www.njlabs.com ) & serum MTHFR genes (methylenetetrahydrofate reductase) C677T & A1298C mutations for folate / homocysteine (hcy) metabolism. OBJECTIVE MACULAR PIGMENT OPTICAL DENSITY DISTRIBUTION: The ARIS (automated retinal imaging system) was used to obtain a digital 7 degree specular image of the 3D macular pigment distribution. Central foveal depression was defined as a foveal dip > 0.04 macular pigment optical density units (du) according to the Waterford, Ireland Macular Pigment Research Group definition. SERUM MARKERS: (www.SpectracellLabs.com).
The majority of children (64%) of AMD parents have a foveal MP dip in at least 1 eye with an average depression of 0.34 (0.18 SD) du unrelated to the 6 genetic markers evaluated and plasma cholesterol, saturated fat, hcy or folate. The depth of the depression is correlated with age (r=0.32) and associated with a lower EPA / DHA / RBC Holman n3 fatty acid index (5.3 +/-1.5 SD) vs. 6.1+/- 2.1 SD; n=72, p=0.07) and higher WBC 1,25 OH D absorption % (65.9 +/-SD10 vs. 61.3+/-10; n=70, p=0.08) respectively for trend( t test, and equal variance).
1) Foveal macula pigment depression (the MP foveal dip phenomenon) is common in children of AMD parents; 2) Is not associated w the chosen 6 genetic haplotypes; 3) Is associated with a suboptimal Holman RBC omega III EPA/DHA fatty acid index and Vitamin D status. These data are significant because the EBAMD population has none of 3 major confounders: AMD, smoking and advanced age associated with higher “MP foveal dip risk”, but merely an affected parent(s).
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