先天性小眼球-无眼球-眼组织缺损的临床特征及治疗进展

Clinical characteristics and treatment progress of microphthalmos-anophthalmos-coloboma

先天性小眼球-无眼球-眼组织缺损(MAC)是结构和临床表现具有相关性的先天性眼畸形疾病,尽管MAC较为少见,但仍成为了儿童致盲的重要原因。目前MAC的病因尚未明确,多种遗传或环境因素都可能造成MAC的发生。特殊的解剖结构使MAC具有复杂的临床表现,且常出现白内障、闭角型青光眼、葡萄膜渗漏、视网膜脱离、眼眶囊肿等多种合并症。这些合并症往往伴随着较高的手术风险及较差的治疗效果。本文通过总结MAC的临床特征、眼部合并症的常见类型及治疗进展,可增进临床医生对MAC的认知,指导临床医生为患者制定个性化且安全的治疗方案。

Microphthalmos-anophthalmos-coloboma (MAC) is structurally and clinically correlated congenital ocular malformation.Although MAC is relatively rare,they still become an important cause of blindness in children.At present,the etiology of MAC is not clear;a variety of genetic or environmental factors may cause MAC.Because of its special anatomical structure,MAC has complex clinical manifestations and multiple complications.The complications including cataract,angle-closure glaucoma,uveal effusion,retinal detachment,orbital cyst,which are often accompanied with increased risks for surgery and poor prognosis.By summarizing the clinical features,the common types of ocular complications,and the progress of the treatment,this article will enhance clinicians’ cognition of MAC and guide clinicians to formulate personalized and safe treatment plans for patients.