Abstract
Neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) have some shared risk factors and clinical manifestation, but there are also some different features. Genetic variants are an important risk factor for both conditions. In this chapter, we reported an updated meta-analysis comparing the genetic variants between PCV and nAMD. Totally 57 SNPs in 20 genes were investigated. Among them, 11 SNPs in ARMS2-HTRA1 and rs77466370 in FGD6 showed significant differences between PCV and nAMD, but the other SNPs had similar distribution between PCV and nAMD, including variants in CFH, VEGF, C2, CFB. These results suggest that PCV and nAMD shares the majority of genetic components, but the variants that distribute differently between these two conditions may explain the pathogenic and clinical difference of PCV and nAMD.
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Chen, H., Ma, L., Liao, X., Chen, L.J., Pang, C.P. (2021). Differential Genotypes in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy: A Updated Meta-Analysis. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume III. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-15-9184-6_8
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