Ye Fu-xiang, Fan Xian-qun
Department of Ophthalmology, Shanghai Ninth People's Hospital Affiliated Shanghai Jiaotong University School of Medicine, Shanghai Jiaotong University School of Medicine, Shanghai 200011, China.
Zhonghua Yan Ke Za Zhi. 2012 Nov;48(11):1049-52.
As 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.
无眼畸形和小眼畸形作为严重的先天性发育障碍，通常伴有患侧视力障碍和眼眶发育不全。许多基因与无眼畸形和小眼畸形有关，其中，SOX2是重要的一个。SOX2缺陷会导致包括无眼畸形和小眼畸形在内的多种系统疾病。我们描述了SOX2缺陷与无眼畸形/小眼畸形之间的关系，以便为无眼畸形和小眼畸形的鉴别诊断、治疗及研究提供一些建议。
