Fig. 2.

Clinical examination and genetic testing of case 2. A: APyC through the undilated pupil with intact iris. B: Dilated eye exam showing a persistent pupillary membrane. C: Ultrasound biomicroscopy demonstrating the morphology of the APyC. D. Missense mutation, p.Ile66Asn (I66N; denoted by ˆ), in the region after the α3 helix of the PAI domain. The isoleucine at this position, which in this mutation is replaced by asparagine, is highly conserved across 6 species, including human. Amino acid sequence alignments from several vertebrate species in the region of the missense mutation is at the bottom. The numbers refer to amino acid positions for human PAX6. Abbreviations: APyC, Anterior Pyramidal Cataracts; PAI, first subunit of the PAIRED DNA-binding domain; Chk, chicken; Gor, gorilla; Hu, human; M, mouse; XL, Xenopus leavis (frog); Zf, zebrafish.