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Research Article

Genetics of Ectopia Lentis

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Pages 313-320 | Received 11 Apr 2013, Accepted 11 Jul 2013, Published online: 18 Oct 2013
 

Abstract

Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic mutations and pathogenesis of subluxated lenses in their isolated forms as well as with associated syndromes. Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, Ectopia Lentis et pupillae, Ehlers Danlos syndrome, homocystinuria, and sulfite oxidase deficiency. Herein we describe the ocular and systemic characteristics found in patients with ectopia lentis, as well as the gene mutations identified thus far.

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