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A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics

BACKGROUND/OBJECTIVES: Fibrillin-1 (FBN1) mutations cause connective tissue dysgenesis the main ocular manifestation being ectopia lentis (EL), which may be syndromic or non-syndromic. We describe a pedigree with a FBN1 mutation causing non-syndromic EL with retinal detachment (RRD) and their manage...

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Autores principales: Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093504/
https://www.ncbi.nlm.nih.gov/pubmed/31527767
http://dx.doi.org/10.1038/s41433-019-0580-2
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author Stephenson, Kirk A. J.
Dockery, Adrian
O’Keefe, Michael
Green, Andrew
Farrar, G. Jane
Keegan, David J.
author_facet Stephenson, Kirk A. J.
Dockery, Adrian
O’Keefe, Michael
Green, Andrew
Farrar, G. Jane
Keegan, David J.
author_sort Stephenson, Kirk A. J.
collection PubMed
description BACKGROUND/OBJECTIVES: Fibrillin-1 (FBN1) mutations cause connective tissue dysgenesis the main ocular manifestation being ectopia lentis (EL), which may be syndromic or non-syndromic. We describe a pedigree with a FBN1 mutation causing non-syndromic EL with retinal detachment (RRD) and their management. SUBJECTS/METHODS: Patients with familial EL with RRD were invited to participate (vitreoretinopathy branch of Target 5000, the Irish inherited retinal degeneration study). All patients signed full informed consent. The study was approved by the Institutional Review Board of the Mater Hospital, Dublin and abided by the Declaration of Helsinki. RESULTS: Seven adults were affected with bilateral EL. All subjects had RRD with bilateral non-synchronous RRD in 57%. CONCLUSIONS: The FBN1 variant described herein confers an increased risk of both EL and RRD and can now be upgraded to ‘pathogenic’ ACMG status.
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spelling pubmed-70935042020-03-26 A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics Stephenson, Kirk A. J. Dockery, Adrian O’Keefe, Michael Green, Andrew Farrar, G. Jane Keegan, David J. Eye (Lond) Article BACKGROUND/OBJECTIVES: Fibrillin-1 (FBN1) mutations cause connective tissue dysgenesis the main ocular manifestation being ectopia lentis (EL), which may be syndromic or non-syndromic. We describe a pedigree with a FBN1 mutation causing non-syndromic EL with retinal detachment (RRD) and their management. SUBJECTS/METHODS: Patients with familial EL with RRD were invited to participate (vitreoretinopathy branch of Target 5000, the Irish inherited retinal degeneration study). All patients signed full informed consent. The study was approved by the Institutional Review Board of the Mater Hospital, Dublin and abided by the Declaration of Helsinki. RESULTS: Seven adults were affected with bilateral EL. All subjects had RRD with bilateral non-synchronous RRD in 57%. CONCLUSIONS: The FBN1 variant described herein confers an increased risk of both EL and RRD and can now be upgraded to ‘pathogenic’ ACMG status. Nature Publishing Group UK 2019-09-16 2020-04 /pmc/articles/PMC7093504/ /pubmed/31527767 http://dx.doi.org/10.1038/s41433-019-0580-2 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Stephenson, Kirk A. J.
Dockery, Adrian
O’Keefe, Michael
Green, Andrew
Farrar, G. Jane
Keegan, David J.
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
title A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
title_full A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
title_fullStr A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
title_full_unstemmed A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
title_short A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
title_sort fbn1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093504/
https://www.ncbi.nlm.nih.gov/pubmed/31527767
http://dx.doi.org/10.1038/s41433-019-0580-2
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