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Review
. 2014 Feb;28(2):162-8.
doi: 10.1038/eye.2013.274. Epub 2014 Jan 10.

Molecular pathogenesis and management strategies of ectopia lentis

A Chandra  1 , D Charteris  2
Affiliations
Review

Molecular pathogenesis and management strategies of ectopia lentis

A Chandra et al. Eye (Lond). 2014 Feb.

Abstract

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.

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Figures

Figure 1
Figure 1
Ectopia lentis—note attenuated zonules offering very limited capsular support.
Figure 2
Figure 2
Summary of the importance of the Ghent criteria 2010 in those without diagnostic cardiovascular features of MFS. ELS, ectopia lentis syndrome; FBN1, fibrillin-1 gene.
See this image and copyright information in PMC

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