Figure 3. Motility photographs of individual II:1 from pedigree YT. Photos are taken in primary gaze (E) and in the 8 cardinal gaze positions (A, B, C, D, F, G, H, I). This individual had strabismus surgery at age 18 years and does not demonstrate all of the typical features of CFEOM. Although her upgaze is restricted, her eyes are not infraducted in primary position and she has no ptosis. Downgaze and horizontal eye movements are relatively well preserved. Her parents are clinically unaffected and her daughter has typical features of CFEOM1 (Figure 2). This individual has a de novo KIF21A mutation.