Abstract
A 10-year-old Black boy was referred for possible retinal hemorrhages. His visual acuity was 20/20 in both eyes. Examination revealed complete iris heterochromia, with one blue iris and one brown iris (Fig A). Fundus examination demonstrated diffuse areas of choroidal hypopigmentation (Fig B-C), notably also in the eye with normal iris pigment. OCT showed a loss of choroidal reflectivity in areas of hypopigmentation (Fig D). The patient did not have a white forelock or hearing loss, but had facial features of telecanthus and a wide nasal root, consistent with a diagnosis of Waardenburg syndrome (Magnified version of Fig A-D is available online at www.aaojournal.org).
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