Mutations in ATR and ATRIP are among the known causes of Seckel syndrome (O'Driscoll et al., 2003; Ogi et al., 2012), and ocular and retinal anomalies have been reported (Aktas et al., 2013; Erdöl et al., 2003; Guirgis et al., 2001; Robbin, 1985). The gene discussed is ATR; the disease is Seckel syndrome.