Waardenburg syndrome – A case series of seven patients
Abstract
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.
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health. Reported size: 7 participants or records.
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