Ocular findings in Angelman's (happy puppet) syndrome.
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.
Dickinson
A J
AJ
Department of Ophthalmology, Leicester Royal Infirmary, UK.
Fielder
A R
AR
Young
I D
ID
Duckett
D P
DP
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015862:Choroid Diseases / Q000150:complications / Q000235:genetics; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004827:Epilepsy / Q000150:complications / Q000235:genetics; D005127:Eye Color / Q000235:genetics; D005128:Eye Diseases / Q000150:complications / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D007499:Iris Diseases / Q000150:complications / Q000235:genetics; D008297:Male; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics; D013577:Syndrome; D014792:Visual Acuity