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先天性无虹膜是一种临床罕见的眼部发育性疾病,而PAX6基因被证明是先天性无虹膜疾病的致病基因。本文综述了先天性无虹膜疾病及PAX6基因及其表达产物的结构、功能和在动物眼球的进化、发育过程中的作用,着重总结了先天性无虹膜和PAX6基因相关性研究的进展和成果。
Congenital absence of the iris is a clinically uncommon ocular developmental disease, whereas the PAX6 gene is proving to be a causative agent of congenital absence of iris. This review summarizes the congenital non-iris diseases, the structure and function of PAX6 gene and its expression products and its role in the evolution and development of animal eyeballs. The progress and achievements in the study of the association of congenital non-iris and PAX6 genes are summarized.