Molecular pathogenesis and management strategies of ectopia lentis
Molecular pathogenesis and management strategies of ectopia lentis
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DOI：
10.1038/eye.2013.274
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发表时间：
2014-02-01
期刊：
影响因子：
3.9
通讯作者：
Charteris, D.
中科院分区：
文献类型：
--
作者：
Chandra, A.;Charteris, D.
晶状体异位（EL）是一种可以预示潜在全身性疾病或孤立的疾病。这些条件的遗传学最近的扩展，进一步了解潜在的分子病因。越来越明显的是，新的基因，特别是ADAMTS（一种具有血小板反应蛋白基序的去整合素和金属蛋白酶）家族，在眼发育中是重要的。这些基因中的共同链接似乎是EL。EL的临床管理具有挑战性。特别是，在异位囊的背景下，解决手术诱导的无晶状体的选择是多种多样的。几乎没有证据表明这些问题的直接管理。本文以遗传病因学为框架，综述了EL的分子发病机制及其相关条件。此外，它总结了一些涉及其临床管理的问题。
Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has furthered the understanding of the underlying molecular aetiology. It is becoming apparent that novel genes, and in particular the ADAMTS ( a disintegrin and metalloproteinase with thrombospondin motifs) family, are important in ocular development. The common link in these genes seems to be EL. The clinical management of EL is challenging. In particular, the options for addressing surgically induced aphakia in the context of an ectopic capsule are varied. Little evidence exists to direct management of these issues. This review summarises the molecular pathogenesis of EL and conditions associated with it, using the genetic aetiology as a framework. Furthermore, it summarises some of the issues involved in its clinical management.