title: The revised ghent nosology; reclassifying isolated ectopia lentis.
abstract: Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically diagnosed with MFS, if their mutation has previously been described with aortic dilation/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL are now reclassified. We provide a review of all published cases of IEL caused by FBN1 mutations over the last 20 years to assess what impact the new Ghent nosology has on these. Indeed, 57/123 probands (46.3%) are now classified as MFS according to the revised Ghent nosology and 37/96 mutations (38.5%) reported to cause isolated EL have also been found in patients with aortic dilation/dissection. These findings suggest that EL caused by mutations in FBN1 is actually part of a spectrum of fibrillinopathies with MFS, and the term 'IEL' should be avoided in such cases.
authors.affiliation: Vitreoretinal Unit, Moorfields Eye Hospital, London, UK; Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK; Vitreoretinal unit, Royal Victoria Eye and Ear Hospital, Melbourne, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Chandra
authors.forename: D
authors.initials: D
authors.lastname: Patel
authors.forename: J A
authors.initials: JA
authors.lastname: Aragon-Martin
authors.forename: A
authors.initials: A
authors.lastname: Pinard
authors.forename: G
authors.initials: G
authors.lastname: Collod-Béroud
authors.forename: P
authors.initials: P
authors.lastname: Comeglio
authors.forename: C
authors.initials: C
authors.lastname: Boileau
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: D
authors.initials: D
authors.lastname: Charteris
authors.forename: A H
authors.initials: AH
authors.lastname: Child
authors.forename: G
authors.initials: G
authors.lastname: Arno
mesh_terms: D004479:Ectopia Lentis / Q000175:diagnosis* / Q000235:genetics*; D000071838:Fibrillin-1; D000071837:Fibrillins; D005838:Genotype; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines
keywords: FBN1; Marfan syndrome; ectopia lentis; isolated ectopia lentis; mutation