In AMD, rare variants were identified in protein-coding regions of CFH, CFI, C3, C9, TIMP3 and SLC16A8 (Raychaudhuri et al., 2011; Helgason et al., 2013; Seddon et al., 2013; van de Ven et al., 2013; Zhan et al., 2013; Fritsche et al., 2016) and helped to establish the immediate role of the complement pathway in AMD pathogenesis. The gene discussed is C9; the disease is age-related macular degeneration.