Department of Ophthalmology and Visual Sciences, University of British Columbia, 2550 Willow Street, Vancouver, BC, V5Z 3N9, Canada.
Hum Genet. 2019 Sep;138(8-9):865-880. doi: 10.1007/s00439-019-02019-3. Epub 2019 May 9.
Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be identified from birth. This congenital anomaly is thought to be caused by maldevelopment of optic fissure closure during early eye morphogenesis. It has been causally linked to both inherited (genetic) and environmental influences. In particular, as a consequence of work to identify genetic causes of coloboma, new molecular pathways that control optic fissure closure have now been identified. Many more regulatory mechanisms still await better understanding to inform on the development of potential therapies for patients with this malformation. This review provides an update of known coloboma genes, the pathways they influence and how best to manage the condition. In the age of precision medicine, determining the underlying genetic cause in any given patient is of high importance.
眼部缺损是一种不常见但常导致视力受损的疾病，通常在出生时即可发现。这种先天性异常被认为是由于早期眼形态发生过程中视神经裂闭合的发育不良引起的。它与遗传（基因）和环境因素都有关系。特别是，在确定眼部缺损遗传原因的工作中，现在已经确定了控制视神经裂闭合的新分子途径。还有更多的调控机制仍有待进一步了解，以便为这种畸形的患者开发潜在的治疗方法提供信息。本综述介绍了已知的眼部缺损基因、它们影响的途径以及如何最好地治疗这种疾病。在精准医学时代，确定任何特定患者的潜在遗传原因非常重要。
