Ocular findings in Angelman's (Happy Puppet) syndrome

Patients with Angelman's syndrome have been reported to have ocular hypopigmen-tation 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.