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圆锥角膜的综述:诊断、病理生理学和遗传学。

A review of keratoconus: Diagnosis, pathophysiology, and genetics.

机构信息

Eye Department, Queen Alexandra Hospital, Portsmouth, Hants, United Kingdom.

Department of Ophthalmology, St Thomas' Hospital, London, United Kingdom.

出版信息

Surv Ophthalmol. 2017 Nov-Dec;62(6):770-783. doi: 10.1016/j.survophthal.2017.06.009. Epub 2017 Jul 6.

Abstract

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.

摘要

我们讨论了圆锥角膜早期检测的新方法以及其病理生理学性质的最新研究。我们回顾了其复杂遗传的现有证据,并评估了目前已确定的基因/基因座和潜在的候选基因/基因座。此外,我们还强调了可能用于进一步阐明圆锥角膜发病机制的当前研究方法。

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