Figure 4. CAS, fundus photographs, and OCT scanning of patients with mutations in PAX6 showing the different extent of iris defects and foveal hypoplasia. A: Color anterior segment (CAS) of Patient 026079 with mutation p.Q47X showing a complete loss of the iris. B: CAS photograph of Patient 026049 with mutation c.-52+1G>T presenting a nearly complete loss of the iris. C: CAS photographs of Patient 026085 with mutation p.X423Lfsext*36 showing partial loss of the iris. D: CAS photograph of Patient 026123-1 with mutation c.1183+5G>A presenting with a full iris but with ectropion uveae. E and F: Fundus photograph and optical coherence tomography (OCT) scanning of Patient 026123-1 displaying foveal hypoplasia.