(A–E) and (G, H) Eye manifestations of patients with CFEOM3 and TUBB3 mutations. (F) and (I) Concomitant deformities of the extremities in two patients. (J) MRI of the brainstem at the level of the oculomotor nerve. (K–L) MRI of posterior orbit of a patient with TUBB3 mutation (K) compared with a normal posterior orbit (L). Reproduced with permission from Tischfield MA, Baris HN, Wu C, et al., “Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance,” Cell. Jan 8 2010;140(1):74–87. 153×207mm (300×300 DPI).