Ophthalmic manifestations of Angelman syndrome

May Ling Mah, David K. Wallace, Cynthia M. Powell

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

In 1965, Angelman described 3 cases of what he called "Puppet" children, named for the characteristic signs associated with what is now known as Angelman syndrome, including mental retardation, speech impairment, easy excitability, and frequent spontaneous laughter.1 Since that report, much progress has been made in defining the syndrome's clinical manifestations and understanding its molecular foundations, including identification of deletions of 15q11-13 in some patients. There are few reports in the ophthalmic literature regarding ocular manifestations of this syndrome.2,3 We present the case of a child with strabismus associated with Angelman syndrome, and we review the ophthalmic and systemic findings, as well as recent advances in molecular genetics, in these patients.

Original languageEnglish (US)
Pages (from-to)248-249
Number of pages2
JournalJournal of AAPOS
Volume4
Issue number4
DOIs
StatePublished - Aug 2000
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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