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圆锥角膜回顾:诊断,病理生理学和遗传学 A review of keratoconus: Diagnosis, pathophysiology, and genetics

Mas, T.V., MacGregor, C., Jayaswal, R., O'Brart, D., Maycock, N.

期刊名称:Survey of Ophthalmology

卷期:2017年第62卷第6期

摘要

摘要:我们讨论了圆锥角膜早期发现的新方法,以及最近关于其病理生理学性质的研究。我们回顾了目前复杂的遗传学证据,并评估了目前确定的基因/位点和潜在候选基因/位点。此外,我们强调目前的研究方法,可用于进一步阐明圆锥角膜的发病机制。

We discuss new approaches to the early detection of keratoconus and recent investigations regarding the nature of its pathophysiology. We review the current evidence for its complex genetics and evaluate the presently identified genes/loci and potential candidate gene/loci. In addition, we highlight current research methodologies that may be used to further elucidate the pathogenesis of keratoconus.


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