COL4A1 and microphthalmia: Subsequently, COL4A1 mutations were identified in patients with a spectrum of ocular defects including ONH (Labelle-Dumais et al., 2011; Yoneda et al., 2013), microphthalmia (Deml et al., 2014; Yoneda et al., 2013), cataract (Kuo et al., 2012; Xia et al., 2014), microcornea (Coupry et al., 2010), Axenfeld-Rieger's anomaly (Coupry et al., 2010; Sibon et al., 2007; Rødahl et al., 2013), Peter's anomaly (Deml et al., 2014), high IOP (Sibon et al., 2007) and glaucoma (Deml et al., 2014; Giorgio et al., 2015; Plancher et al., 2015; Meuwissen et al., 2015).