Case Study: Genetic Risk Score Identifies Increased Risk of Macular Degeneration
A 65-year-old man presented with concerns about a strong family history of age-related macular degeneration (ARMD). The patient’s genetic risk screen for genetic variants that predispose to ARMD is shown below.
Detection of Early Macular Degeneration
The patient’s polygenic risk score estimated a 20% increased risk of developing ARMD. Based on a significant predisposition to the disease, retinal fundiscopic photography was ordered which revealed deposits of soft drusen in the left retina (below). This represents the very earliest stage of the disease.
Research has found consistent associations between low-grade systemic inflammation, an altered gut microbiome, an increased risk of systemic vasculopathy and development of late stage blinding ARMD. (1,2,3) An analysis of the patient’s gut microbiome found enrichment of microorganisms associated with high-fat, low fiber diet.
Genetic risk scoring identified an increased risk of developing ARMD.
Genetic screening prompted a retinal fundiscopic examination which confirmed early (subclinical) ARMD.
Analysis of the gut microbiome revealed an abundance of microorganisms capable of contributing to systemic inflammation and advancing the progression of ARMD.
A personalized prescription included, but was not limited to: prescription UV and blue light blocking eyewear, a whole food, plant-based diet with a close eye on omega-3:omega-6 ratios and adequate dietary sources of lutein/ and zeaxanthin, an individualized exercise prescription, and a prescription for prebiotics + medical food for the patient’s gut dysbiosis.
- Zinkernagel MS, Zysset-Burri DC, Keller I, Berger LE, Leichtle AB, Largiadèr CR, Fiedler GM, Wolf S. Association of the Intestinal Microbiome with the Development of Neovascular Age-Related Macular Degeneration. Sci Rep. 2017 Jan 17;7:40826.
- Andriessen EM, Wilson AM, Mawambo G, Dejda A, Miloudi K, Sennlaub F, Sapieha P. Gut microbiota influences pathological angiogenesis in obesity-driven choroidal neovascularization. EMBO Mol Med. 2016 Dec 1;8(12):1366-1379.
- Rowan S, Jiang S, Korem T, Szymanski J et al. Involvement of a gut-retina axis in protection against dietary glycemia-induced age-related macular degeneration. Proc Natl Acad Sci U S A. 2017 May 30;114(22):E4472-E4481.