OCULAR FINDINGS IN ANGELMAN (HAPPY PUPPET) SYNDROME

被引：25

作者：

DICKINSON, AJ

FIELDER, AR

YOUNG, ID

DUCKETT, DP

机构：

[1] Departments of Ophthalmology, Leicester Royal Infirmary, Leicester

[2] Departments of Child Health, Leicester Royal Infirmary, Leicester

[3] Departments of Cytogenetics, Leicester Royal Infirmary, Leicester

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1990年 / 11卷 / 01期

关键词：

Angelman's syndrome; Chromosome; 15q; 11; →; 13; Neural crest; Ocular hypopigmentation;

D O I：

10.3109/13816819009012942

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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. © 1990 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.

引用

页码：1 / 6

页数：6

共 27 条

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