摘要先天性小眼球和无眼球是一种严重眼球先天性发育疾病,患侧通常有严重的视力障碍,同时伴有患侧眼眶发育迟缓.先天性小眼球和无眼球的发病与诸多基因相关,其中,较为重要的是SOX2基因,其缺陷可导致包括先天性无眼球和小眼球在内的多系统异常.本文对SOX2基因缺陷与先天性小眼球和无眼球之间的关系进行简要综述,为先天性小眼球和无眼球的鉴别、诊治和研究提供一定的参考.

abstractsAs a severe congenital developmental disorder,anophthalmia and microphthalmia are usually accompanied with vision impairment and hypoevolutism of the orbit in the affected side.Many genes are involved in anophthalmia and microphthalmia,in which,SOX2 is an important one.The defect of SOX2 causes multiple system disorders,including anophthalmia and microphthalmia.We describe the relationship between the SOX2 defect and anophthalmia/microphthalmia,in order to offer some proposals for the differential diagnosis,treatment and research of anophthalmia and microphthalmia.