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Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective

Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15–21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of conn...

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Autores principales: Esfandiari, Hamed, Ansari, Shabnam, Mohammad-Rabei, Hossein, Mets, Marilyn B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388525/
https://www.ncbi.nlm.nih.gov/pubmed/30820290
http://dx.doi.org/10.4103/jovr.jovr_29_18
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author Esfandiari, Hamed
Ansari, Shabnam
Mohammad-Rabei, Hossein
Mets, Marilyn B.
author_facet Esfandiari, Hamed
Ansari, Shabnam
Mohammad-Rabei, Hossein
Mets, Marilyn B.
author_sort Esfandiari, Hamed
collection PubMed
description Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15–21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of connective tissue. In the eye, fibrillin is a key constituent of the ciliary zonules, which suspend the crystalline lens in place. The zonular defect leads to ectopia lentis, which is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of cases. Other less common ocular features of Marfan syndrome are increased axial length, astigmatism, and flat cornea. Visual function in Marfan syndrome could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma. Management of a subluxated lens starts with the correction of refractive error with eyeglasses in mild cases. In more severe cases, especially when the lens bisects the pupil, complete correction of refractive error is impossible without removing the subluxated lens. The best method for visual rehabilitation after lens extraction is still debated. Aphakic Artisan lens implantation at the time of subluxated lens removal results in good visual outcomes with an acceptable safety profile. Studies with longer term follow-up and larger sample populations are needed to evaluate the safety of this procedure in patients with Marfan syndrome.
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spelling pubmed-63885252019-02-28 Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective Esfandiari, Hamed Ansari, Shabnam Mohammad-Rabei, Hossein Mets, Marilyn B. J Ophthalmic Vis Res Review Article Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15–21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of connective tissue. In the eye, fibrillin is a key constituent of the ciliary zonules, which suspend the crystalline lens in place. The zonular defect leads to ectopia lentis, which is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of cases. Other less common ocular features of Marfan syndrome are increased axial length, astigmatism, and flat cornea. Visual function in Marfan syndrome could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma. Management of a subluxated lens starts with the correction of refractive error with eyeglasses in mild cases. In more severe cases, especially when the lens bisects the pupil, complete correction of refractive error is impossible without removing the subluxated lens. The best method for visual rehabilitation after lens extraction is still debated. Aphakic Artisan lens implantation at the time of subluxated lens removal results in good visual outcomes with an acceptable safety profile. Studies with longer term follow-up and larger sample populations are needed to evaluate the safety of this procedure in patients with Marfan syndrome. Medknow Publications & Media Pvt Ltd 2019 /pmc/articles/PMC6388525/ /pubmed/30820290 http://dx.doi.org/10.4103/jovr.jovr_29_18 Text en Copyright: © 2019 Journal of Ophthalmic and Vision Research http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Review Article
Esfandiari, Hamed
Ansari, Shabnam
Mohammad-Rabei, Hossein
Mets, Marilyn B.
Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
title Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
title_full Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
title_fullStr Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
title_full_unstemmed Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
title_short Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
title_sort management strategies of ocular abnormalities in patients with marfan syndrome: current perspective
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388525/
https://www.ncbi.nlm.nih.gov/pubmed/30820290
http://dx.doi.org/10.4103/jovr.jovr_29_18
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