The genetics of anophthalmia and microphthalmia
The genetics of anophthalmia and microphthalmia
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DOI：
10.1097/icu.0b013e328349b004
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发表时间：
2011-09-01
影响因子：
3.7
通讯作者：
Schneider, Adele
中科院分区：
文献类型：
--
作者：
Bardakjian, Tanya M.;Schneider, Adele
综述的目的总结已知在人类正常眼发育中起作用的基因的最新突破，并阐明这些基因的突变在无眼症和小眼症中所起的作用。最新发现本文讨论的主要主题是在识别无眼症和小眼症的各种原因方面的各种文献记载的遗传进展。此外，还将解决这些基因在关键胚胎发育过程中的复杂相互作用。摘要最近对许多眼睛发育基因的鉴定改变了许多人识别无眼球和小眼球的原因的能力。症状识别和基因检测的可用性强调了遗传学家对所有无眼球和小眼球患者进行评估的必要性，以便提供适当的治疗、长期指导和遗传咨询。
Purpose of reviewTo 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.Recent findingsThe 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.SummaryThe 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.