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The youngest child whose visual acuity could be assessed with Lea symbols was 23 months old. Almost every child older than 30 months could be tested with Lea symbols. Lea acuity higher than 1 and an interocular difference less than 2 lines is not suspect for amblyopia. Children with a difference of more than one line should be reexamined.

We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.

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In case of visual loss of unknown etiology electrophysiological testing is indicated. The mfERG as an objective diagnostic method is able to detect a foveal cone dystrophy.