To date, over 30 NMNAT1 mutations have been linked to the severe blinding diseases Leber congenital amaurosis type 9 (LCA9) and related cone-rod dystrophy (Perrault et al., 2012; Falk et al., 2012; Chiang et al., 2012; Koenekoop et al., 2012; Coppieters et al., 2015; Nash et al., 2018). The gene discussed is NMNAT1; the disease is Leber congenital amaurosis 9.