title: [SOX2 defect and anophthalmia and microphthalmia].
abstract: 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.
authors.affiliation: Department of Ophthalmology, Shanghai Ninth People's Hospital Affiliated Shanghai Jiaotong University School of Medicine, Shanghai Jiaotong University School of Medicine, Shanghai 200011, China.
authors.forename: Fu-xiang
authors.initials: FX
authors.lastname: Ye
authors.forename: Xian-qun
authors.initials: XQ
authors.lastname: Fan
mesh_terms: D000853:Anophthalmos / Q000235:genetics*; D006801:Humans; D008850:Microphthalmos / Q000235:genetics*; D009154:Mutation; D055748:SOXB1 Transcription Factors / Q000235:genetics*
chemical_list: D055748:SOXB1 Transcription Factors