Albert Einstein Medical Center, Division of Genetics, Philadelphia, Pennsylvania 19141, USA.
Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. doi: 10.1097/ICU.0b013e328349b004.
To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia.
The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition, the complex interplay of these genes during critical embryonic development will be addressed.
The recent identification of many eye development genes has changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals. Syndrome identification and the availability of genetic testing underscores the desirability of evaluation by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appropriate management, long-term guidance, and genetic counseling.
总结人类眼球正常发育相关基因的最新研究进展，阐明这些基因的突变在无眼症和小眼症中的作用。
本文主要讨论了在确定无眼症和小眼症的各种病因方面取得的遗传研究进展。此外，还将讨论这些基因在胚胎发育关键期的复杂相互作用。
许多眼球发育基因的最新发现改变了许多无眼症和小眼症患者病因鉴定的能力。综合征的识别和遗传检测的应用强调了所有无眼症和小眼症患者都应由遗传学家进行评估的必要性，以便提供适当的管理、长期指导和遗传咨询。
