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. 2011 Mar 11;17:708–714.

Figure 1.

Figure 1

Patient 2, without pharmacologic mydriasis. A: Retroillumination shows lack of iris and the lenticular changes (left eye shown). B: Diffuse illumination reveals surface keratopathy (left eye shown). C: There was no defined fovea by indirect ophthalmoscopy (left eye shown). D: sequencing revealed a novel PAX6 mutation (p.E185EfsX14).