先天性无眼球和小眼球的遗传学病因及临床对策  

Genetic etiology and clinical strategies of congenital anophthalmia and microphthalmia

作　　者：廖科人(综述) 沈吟(审校)[1] Liao Keren;Shen Yin(Eye Center,Renmin Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院眼科中心,武汉430060

出　　处：《中华实验眼科杂志》2024年第10期945-951,共7页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金(82471086)。

摘　　要：先天性无眼球和小眼球分别指眼球缺失和眼轴长度明显缩短。其中,单纯性小眼球仅眼球体积小于正常,不伴其他眼部畸形。先天性无眼球和小眼球的患病率为1.18/10000,病因以遗传缺陷为主,常见的致病基因包括SOX 2、OTX2、PAX6、RAX。近年研究结果表明MAB 21L1、EPHA2、VPS35L、FAT1等基因异常也与先天性无眼球和小眼球的发生和发展有关。高龄生育、妊娠期糖尿病和妊娠期吸烟是该病的危险因素。先天性无眼球和小眼球可通过眼部超声或磁共振成像测量眼轴长度和角膜直径确诊。目前,先天性无眼球和小眼球仍以对症治疗为主,其常见并发症包括远视、青光眼、眼眶发育异常和葡萄膜渗漏综合征。本文就先天性无眼球和小眼球的遗传学病因和治疗策略进行综述,以期为其诊治提供新的思路。Congenital anophthalmia and microphthalmia refer to the absence of eyeball and a significantly shortened axial length,respectively.Among them,simple microphthalmia only has a smaller eyeball volume than normal without other eye malformations.The prevalence of congenital anophthalmia and microphthalmia is 1.18/10000 and the etiology of the diseases are dominated by genetic defects,with common causative genes including SOX 2,OTX2,PAX6 and RAX.Recent research results have shown that genetic abnormalities of MAB 21L1,EPHA2,VPS35L,FAT1 are also associated with the occurrence and development of the diseases.Advanced childbearing age,gestational diabetes and smoking during pregnancy are risk factors for the diseases.Congenital anophthalmia and microphthalmia can be diagnosed by ocular ultrasound or magnetic resonance imaging measurement of axial length and corneal diameter.At present,congenital anophthalmia and microphthalmia mainly focus on symptomatic treatment.The common complications of congenital anophthalmia and microphthalmia include hyperopia,glaucoma,orbital dysplasia,and uveal effusion.To provide new ideas for the diagnosis and treatment of congenital anophthalmia and microphthalmia,genetic etiology and treatment are reviewed in this article.

关 键 词：先天性无眼球 先天性小眼球 基因 临床表现 治疗 

分 类 号：R771.1[医药卫生—眼科]