title: Genetics of ectopia lentis.
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.
authors.affiliation: Department of Ophthalmology, Boston Children's Hospital , Boston, Massachusetts , USA.
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Sadiq
authors.forename: Deborah
authors.initials: D
authors.lastname: Vanderveen
mesh_terms: D004479:Ectopia Lentis / Q000235:genetics*; D006801:Humans; D009154:Mutation