Figure 2.

New OTX2 missense variant associated with anophthalmia. (A) Pedigree of family MA_1 showing the cosegregation analysis of the OTX2 variant. DNA chromatograms for patient II:2 and her father (I:1) showing the position of the variant. Note that the unaffected mother also carried the mutation. (B) Ultrasound scan of both eyes showing complete absence of ocular globes. (C) Axial and coronal MRI images revealing absence of the optic nerves and chiasm (the triangle depicts the region where optic chiasm should be), but presence of extraocular muscles in individual II:2 (arrows). (D) Schematic representation of the OTX2 protein, showing the homeodomain (HD) as well as the SGQFTP, SIWSPA, and OTX2 tail motifs. The position of the new p.(Ala91Asp) mutation is depicted in red, whereas previously described MA missense variants are shown in black (according to HGMD database). (E) Amino acid alignment of OTX2 proteins from different species. The affected residue is conserved in all species.