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The revised ghent nosology; reclassifying isolated ectopia lentis
Author(s) -
Chandra A.,
Patel D.,
AragonMartin J.A.,
Pinard A.,
CollodBéroud G.,
Comeglio P.,
Boileau C.,
Faivre L.,
Charteris D.,
Child A.H.,
Arno G.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12358
Subject(s) - ectopia lentis , nosology , marfan syndrome , proband , medicine , genetics , pathology , mutation , biology , gene
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.