综合征性眼窝缺损的遗传学：CHARGE 和 COACH 综合征。
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
机构信息
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health. Bethesda, Maryland, 20892, USA.
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health. Bethesda, Maryland, 20892, USA.
出版信息
Exp Eye Res. 2020 Apr;193:107940. doi: 10.1016/j.exer.2020.107940. Epub 2020 Feb 4.
Abstract
Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.
摘要
视裂闭合缺陷导致葡萄膜脑裂畸形，这是一种潜在致盲疾病，每 10000 例活产儿中有 0.5 至 2.6 例受累，可导致多达 10%的儿童失明。葡萄膜脑裂畸形与小眼（小眼球）和无眼（先天/无眼部组织）存在表型连续体，即所谓的 MAC 谱。本文简要概述了脑裂畸形的发育生物学及其临床表现/谱。特别关注两种突出的、综合征形式的脑裂畸形，即 CHARGE（脑裂、心脏缺陷、后鼻孔闭锁、生长发育迟缓、生殖器发育不良和耳部异常/耳聋）和 COACH（小脑蚓部发育不良、智力低下、共济失调、脑裂和肝纤维化）综合征。还讨论了在动物模型中鉴定参与视裂闭合的基因所采用的方法以及斑马鱼眼部发育的实时成像的最新进展。
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