Ocular manifestations of Beckwith-Wiedemann syndrome

Journal of American Association for Pediatric Ophthalmology and Strabismus(2021)

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摘要
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.
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