晶状体异位的分子发病机制及治疗策略
Molecular pathogenesis and management strategies of ectopia lentis.
作者信息
Chandra A, Charteris D
机构信息
1] Vitreoretinal Department, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia [2] Vitreoretinal Department, Moorfields Eye Hospital, London, UK.
Vitreoretinal Department, Moorfields Eye Hospital, London, UK.
出版信息
Eye (Lond). 2014 Feb;28(2):162-8. doi: 10.1038/eye.2013.274. Epub 2014 Jan 10.
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.
晶状体异位（EL）是一种既可能预示潜在全身性疾病，也可能孤立存在的病症。这些病症遗传学方面最近的进展进一步加深了对潜在分子病因的理解。越来越明显的是，新基因，尤其是含血小板反应蛋白基序的解聚素和金属蛋白酶（ADAMTS）家族，在眼部发育中很重要。这些基因的共同关联似乎是晶状体异位。晶状体异位的临床管理具有挑战性。特别是，在异位晶状体囊的情况下处理手术引起的无晶状体的选择多种多样。几乎没有证据可指导这些问题的处理。本综述以遗传病因学为框架，总结了晶状体异位及其相关病症的分子发病机制。此外，还总结了其临床管理中涉及的一些问题。
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