The revised ghent nosology; reclassifying isolated ectopia lentis

Authors

  • A. Chandra,

    1. Vitreoretinal Unit, Moorfields Eye Hospital, London, UK
    2. Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK
    3. Vitreoretinal unit, Royal Victoria Eye and Ear Hospital, Melbourne, Australia
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  • D. Patel,

    1. Vitreoretinal Unit, Moorfields Eye Hospital, London, UK
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  • J.A. Aragon-Martin,

    1. Cardiac and Vascular Sciences, St Georges University of London, London, UK
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  • A. Pinard,

    1. Aix Marseille Université, GMGF, 13385, Marseille, France
    2. INSERM, UMR_S 910, 13385, Marseille, France
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  • G. Collod-Béroud,

    1. Aix Marseille Université, GMGF, 13385, Marseille, France
    2. INSERM, UMR_S 910, 13385, Marseille, France
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  • P. Comeglio,

    1. Cardiac and Vascular Sciences, St Georges University of London, London, UK
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  • C. Boileau,

    1. Institut National de la Santé et de la Recherche Médicale Unité 698, Hôpital Bichat, Paris, France
    2. Centre de Référence pour les Syndromes de Marfan et Apparentés, Service de Cardiologie, Hôpital Bichat, Assistance Publique – Hôpitaux de Paris, Paris, France
    3. Service de Cardiologie, Hopital Bichat, Assistance Publique, Hôpitaux de Paris, Paris, France
    4. Unité de Formation et de Recherche de Médecine, Université Paris Diderot, Paris, France
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  • L. Faivre,

    1. Equipe GAD, EA 4271, Université de Bourgogne, Dijon, France
    2. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon, France
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  • D. Charteris,

    1. Vitreoretinal Unit, Moorfields Eye Hospital, London, UK
    2. Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK
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  • A.H. Child,

    1. Cardiac and Vascular Sciences, St Georges University of London, London, UK
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  • G. Arno

    Corresponding author
    1. Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK
    • Corresponding author: Gavin Arno, Inherited Eye Disease, UCL Institute of Ophthalmology, London, UK.Tel: 020 7608 6971.

      e-mail: g.arno@ucl.ac.uk

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  • All authors declare no conflict of interest.

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.

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