title: Molecular pathogenesis and management strategies of ectopia lentis.
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.
authors.affiliation: 1] Vitreoretinal Department, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia [2] Vitreoretinal Department, Moorfields Eye Hospital, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Chandra
authors.affiliation: Vitreoretinal Department, Moorfields Eye Hospital, London, UK.
authors.forename: D
authors.initials: D
authors.lastname: Charteris
mesh_terms: D051722:ADAM Proteins / Q000235:genetics; D003261:Contact Lenses; D004479:Ectopia Lentis / Q000235:genetics* / Q000628:therapy*; D005139:Eyeglasses; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D018918:Phacoemulsification
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D051722:ADAM Proteins