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: Sequence 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.