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Ocular findings in Angelman's (happy puppet) syndrome
A J Dickinson1, A R Fielder, I D Young
1Department of Ophthalmology, Leicester Royal Infirmary, UK.
Ophthalmic Paediatrics and Genetics
|March 1, 1990
Abstract:
Patients with Angelman's syndrome have been reported to have ocular hypopigmentation and a number are now known to have a microdeletion of chromosome 15q 11----13. Detailed ocular examination of eight new cases revealed normal visual acuity and foveal reflexes, but a pigmentary deficiency which is limited to the choroid and iris stroma--both of neural crest origin. Patients with Prader-Willi syndrome have similar ocular features and many have a microdeletion of chromosome 15q 11----13. It is therefore possible that this region may influence neural crest development.