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.
Type de document :
Article dans une revue
Clinical Genetics, Wiley, 2015, 87 (3), pp.284-287. 〈10.1111/cge.12358〉
Liste complète des métadonnées

Littérature citée [12 références]  Voir  Masquer  Télécharger

https://hal.archives-ouvertes.fr/hal-01670143
Contributeur : Gwenaëlle Collod-Beroud <>
Soumis le : jeudi 21 décembre 2017 - 10:28:11
Dernière modification le : lundi 27 août 2018 - 09:44:38

Fichier

2015-ClinGenet ...
Fichiers produits par l'(les) auteur(s)

Identifiants

Collections

Citation

A. Chandra, D. Patel, A. Aragon-Martin, Amélie Pinard, Gwenaëlle Collod-Béroud, et al.. The revised ghent nosology; reclassifying isolated ectopia lentis. Clinical Genetics, Wiley, 2015, 87 (3), pp.284-287. 〈10.1111/cge.12358〉. 〈hal-01670143〉

Partager

Métriques

Consultations de la notice

116

Téléchargements de fichiers

32