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.

中文翻译：

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症状性眼球疣的遗传学：CHARGE和COACH综合征。

视裂闭合缺陷会导致葡萄膜湿疣，这是一种潜在的致盲性疾病，每10,000例婴儿中有0.5到2.6例，可能导致儿童失明的10％。葡萄膜结肠炎是在表型连续体上，具有小眼症（小眼）和无眼症（原始/无眼组织），即所谓的MAC光谱。这篇评论简要概述了结肠癌背后的发育生物学及其临床表现/频谱。将特别注意两种大淋巴瘤的综合症形式，即CHARGE（大淋巴瘤，心脏缺陷，闭锁性闭锁，发育迟缓，生殖器发育不全和耳朵异常/耳聋）和COACH（小脑ver部发育不全，少食症，共济失调） ，大肠癌和肝纤维化）综合征。