Waardenburg syndrome – A case series of seven patients

Waardenburg syndrome is an autosomal dominant syndrome with an incidence of 1 in 40000 globally. In this case series of seven patients who visited a tertiary care centre in south India, the heterogenicity of the syndrome can be seen. All the subjects had iris heterochromia but other clinical features varied. In addition, we also encountered choroid hypopigmetation in 5/7 subjects, foveal hypoplasia in 1/7, and unilateral high myopia with anisometropic amblyopia in 1/7, which are not commonly reported in the literature. Hearing loss can be detected by early screening of infants with iris heterochromia.