Ocular manifestations of Beckwith-Wiedemann syndrome

Abstract

Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is a pediatric overgrowth disorder with few known ocular manifestations. We retrospectively reviewed the medical records of patients with BWS evaluated at Bascom Palmer Eye Institute over a 10-year period and identified 5 patients, of whom 4 presented with ocular misalignment and 1 with eye rubbing. Three patients were noted to have strabismus, and 1 patient manifested with significant astigmatism. No patients received surgical intervention.