Aniridia

被引：182

作者：

Hingorani, Melanie ^{[2
,3
]}

Hanson, Isabel ^{[1
]}

van Heyningen, Veronica ^{[1
]}

机构：

[1] Univ Edinburgh, Western Gen Hosp, MRC Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Hinchingbrooke Hosp, Cambridge, England

[3] Moorfields Eye Hosp, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 10期

基金：

英国医学研究理事会;

关键词：

aniridia; PAX6; eye; iris; foveal hypoplasia; WAGR syndrome; TUMOR-STUDY-GROUP; PAX6; GENE; WILMS-TUMOR; WAGR SYNDROME; MENTAL-RETARDATION; CONGENITAL ANIRIDIA; MISSENSE MUTATIONS; RIEGER-SYNDROME; MALFORMATIONS; PHENOTYPE;

D O I：

10.1038/ejhg.2012.100

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene. This article will review the clinical manifestations, the molecular basis including genotype-phenotype correlations, diagnostic approaches and management of aniridia.

引用

页码：1011 / 1017

页数：7

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