The revised ghent nosology; reclassifying isolated ectopia lentis

A. Chandra (1, 2) , D. Patel (1) , A. Aragon-Martin (3) , Amélie Pinard (4) , Gwenaëlle Collod-Béroud (4) , C Comeglio , C. Boileau (5) , L. Faivre (6, 7) , D. Charteris (1) , a H Child , G. Arno

1 Moorfields Eye Hospital
2 UCL Institute of Ophthalmology
3 St Georges University of London
4 GMGF - Génétique Médicale et Génomique Fonctionnelle
5 Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement
6 GAD - Génétique des Anomalies du Développement
7 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)

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.

Mots clés: mutation; FBN1; Marfan syndrome; ectopia lentis; isolated ectopia lentis

Domaines: Génétique humaine; Organes des sens

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