Figure 1. Identification of a c.70del20
mutation in a patient with unilateral microphthalmia. A:
Photograph of Patient 1 with SOX2 anophthalmia syndrome. Note
right microphthalmia (prosthesis in place) and prominent ears. B:
fragments showing the c.70del20 region in the patient (p), his
mother (m) and his father (f). The position of the deletion is
indicated with a red arrow. Note normal SOX2 sequence in the
patient’s parents consistent with their unaffected status.