Ophthalmic manifestations of Angelman syndrome.
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.
Mah
M L
ML
Departments of Ophthalmology and Pediatrics, Division of Genetics and Metabolism, the University of North Carolina at Chapel Hill, 27599-7040, USA.
Wallace
D K
DK
Powell
C M
CM
D017204:Angelman Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D005099:Exotropia / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery; D005133:Eye Movements; D005260:Female; D006801:Humans; D009801:Oculomotor Muscles / Q000503:physiopathology / Q000601:surgery