To illustrate the connections between Pax6 and H3K4me1 and H3K4me3, we focused on pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1, Plekha1. The human PLEKHA1-ARMS2-HTRA1 gene cluster is on chromosome 10; GWAS studies have implicated this cluster in the pathogenesis of age-related macular degeneration (AMD) [57], a disease caused by dysfunctional retinal pigmented epithelium (RPE). Here, PAX6 is linked to age-related macular degeneration.