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A H Child - One of the best experts on this subject based on the ideXlab platform.
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The revised ghent nosology; reclassifying isolated Ectopia Lentis
Clinical Genetics, 2015Co-Authors: A. Chandra, D. Patel, A. Aragon-martin, Amélie Pinard, Gwenaëlle Collod-béroud, C Comeglio, C. Boileau, L. Faivre, D. Charteris, A H ChildAbstract: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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identification of fbn1 gene mutations in patients with Ectopia Lentis and marfanoid habitus
British Journal of Ophthalmology, 2002Co-Authors: P Comeglio, A L Evans, G Brice, R J Cooling, A H ChildAbstract:Background: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia Lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to the same FBN1 locus. Methods: A consecutive series of 11 patients, affected predominantly by EL, was analysed for FBN1 mutations using PCR, SSCA, and sequencing. Results: Six mutations were identified, of which three are novel and one is recurrent in two patients, thus establishing a mutation incidence in this group of 7/11 (63%). Conclusion: The FBN1 variants reported are clustered in the first 15 exons of the gene, while FBN1 mutations reported in the literature are distributed throughout the entire length of the gene. A different type of FBN1 mutation presents in this group of patients, compared with MFS, with arginine to cysteine substitutions appearing frequently.
A. Chandra - One of the best experts on this subject based on the ideXlab platform.
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The revised ghent nosology; reclassifying isolated Ectopia Lentis
Clinical Genetics, 2015Co-Authors: A. Chandra, D. Patel, A. Aragon-martin, Amélie Pinard, Gwenaëlle Collod-béroud, C Comeglio, C. Boileau, L. Faivre, D. Charteris, A H ChildAbstract: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.
C. Boileau - One of the best experts on this subject based on the ideXlab platform.
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The revised ghent nosology; reclassifying isolated Ectopia Lentis
Clinical Genetics, 2015Co-Authors: A. Chandra, D. Patel, A. Aragon-martin, Amélie Pinard, Gwenaëlle Collod-béroud, C Comeglio, C. Boileau, L. Faivre, D. Charteris, A H ChildAbstract: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.
L. Faivre - One of the best experts on this subject based on the ideXlab platform.
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The revised ghent nosology; reclassifying isolated Ectopia Lentis
Clinical Genetics, 2015Co-Authors: A. Chandra, D. Patel, A. Aragon-martin, Amélie Pinard, Gwenaëlle Collod-béroud, C Comeglio, C. Boileau, L. Faivre, D. Charteris, A H ChildAbstract: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.
C Comeglio - One of the best experts on this subject based on the ideXlab platform.
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The revised ghent nosology; reclassifying isolated Ectopia Lentis
Clinical Genetics, 2015Co-Authors: A. Chandra, D. Patel, A. Aragon-martin, Amélie Pinard, Gwenaëlle Collod-béroud, C Comeglio, C. Boileau, L. Faivre, D. Charteris, A H ChildAbstract: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.
