The unraveling of the genetic background of age-related macular degeneration (AMD) is occurring at a tremendously fast pace. Researchers have shown that single nucleotide polymorphisms (SNPs) in the CFH, LOC387715, C2/FB, and HTRA1 genes are highly associated with AMD1- 10 and have estimated that they explain more than 50% of all cases.2,4,7,10 These genetic discoveries are a major breakthrough for understanding the pathogenesis of the disease, but whether they can be used to improve the prediction of end-stage AMD in individuals at risk is still open to question.11 This requires that testing of multiple SNPs, or genetic profiling, be a better predictor than classic risk factors.
Despriet DDG, Klaver CCW, van Duijn CC, Janssens ACJW. Predictive Value of Multiple Genetic Testing for Age-Related Macular Degeneration. Arch Ophthalmol. 2007;125(9):1270-1271. doi:10.1001/archopht.125.9.1270