PAX6 and microphthalmia: High-quality RNA was extracted from a WT line, patient one (P1, unsolved genetic diagnosis following whole-genome sequencing and full targeted gene panel screen of structural eye disease genes [Patel et al., 2019]), and patient two (P2, with PAX6-heterozygous missense (c.372C>A) p.(Asn124Lys) variant, confirmed pathogenic for microphthalmia) (Méjécase et al., 2020; Harding et al., 2021).