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Risk factors for progression of age-related macular degeneration

Ophthalmic and Physiological Optics Mar 06, 2020

Heesterbeek TJ, et al. - Via reviewing the current literature examining phenotypic, demographic, environmental, genetic, and molecular risk factors, researchers sought to propose the most consistently identified risk factors for disease progression in age-related macular degeneration (AMD). Subsequently, they delineated the potential utility of these risk factors for personalized healthcare. While for predicting disease progression during the course of the disease phenotypic risk factors such as drusen and pigment abnormalities seemed more important, a higher value was suggested of demographic, environmental, genetic and molecular risk factors at earlier disease stages. They identified consistent association of demographic and environmental risk factors such as age and smoking with disease progression. Disease progression was observed in most consistent associations with the following known AMD variants: rs10922109 and rs570618 in CFH, rs116503776 in C2/CFB/SKIV2L, rs3750846 in ARMS2/HTRA1 and rs2230199 in C3. However, other AMD variants also seemed contributing to disease progression but to a lesser extent. In highly affected families, rare variants have seemingly a large effect on disease progression. Furthermore, molecular risk factors are not included in current prediction models, despite the fact that these factors can be measured accurately in the blood. High-Density Lipoprotein Cholesterol, Docosahexaenoic acid, eicosapentaenoic acid, zeaxanthin, and lutein are suggested as the possible promising molecular risk factors. These findings support combining phenotypic, demographic, environmental, genetic and molecular risk factors in prediction models for prediction of disease progression, however, there will be differences in the selection of the proper risk factors for personalized risk prediction among individuals and it may require considering their current disease stage.
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