Fig. 1

The phenotype of the proband with variant in PITX3. Fig. A1 The photography of the right eye. Buphthalmos with macrocornea (14.50 mm*14.50 mm), corneal opacity and edema were detected. Fig. A2 B-scan of the right eye. Buphthalmos with axial length of 22.04 mm was present and an inferiorly decentred excavation within the superficial optic disc tissue revealed in the red box. Fig. B1 The photography of the left eye. Microcornea (7.50 mm*6.50 mm) and corneal opacity were detected. Fig. B2 Microphthalmia with axial length of 16.23 mm was detected