PAX6 and familial hyperaldosteronism: Importantly, many of these pathways are also disrupted in Mendelian syndromes characterized by FH (e.g., TYR, OCA2, PAX6, KIF11, AHR), supporting a continuum model of foveal development in which the same developmental programs may be subtly perturbed by common variants or severely disrupted by rare, high-impact mutations.