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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| Format: | Article |
| Language: | English |
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Knowledge E
2019-01-01
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| Series: | Journal of Ophthalmic & Vision Research |
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| Online Access: | http://www.jovr.org/article.asp?issn=2008-322X;year=2019;volume=14;issue=1;spage=71;epage=77;aulast=Esfandiari |
| _version_ | 1811192837676466176 |
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| author | Hamed Esfandiari Shabnam Ansari Hossein Mohammad-Rabei Marilyn B Mets |
| author_facet | Hamed Esfandiari Shabnam Ansari Hossein Mohammad-Rabei Marilyn B Mets |
| author_sort | Hamed Esfandiari |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T23:57:48Z |
| format | Article |
| id | doaj.art-caab1133738b4e998c1829cb61916652 |
| institution | Directory Open Access Journal |
| issn | 2008-322X |
| language | English |
| last_indexed | 2024-04-11T23:57:48Z |
| publishDate | 2019-01-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Journal of Ophthalmic & Vision Research |
| spelling | doaj.art-caab1133738b4e998c1829cb619166522022-12-22T03:56:19ZengKnowledge EJournal of Ophthalmic & Vision Research2008-322X2019-01-01141717710.4103/jovr.jovr_29_18Management strategies of ocular abnormalities in patients with marfan syndrome: Current perspectiveHamed EsfandiariShabnam AnsariHossein Mohammad-RabeiMarilyn B MetsMarfan 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.http://www.jovr.org/article.asp?issn=2008-322X;year=2019;volume=14;issue=1;spage=71;epage=77;aulast=EsfandiariEctopis Lentis; Management; Marfan Syndrome; Ocular Complication; Ophthalmology |
| spellingShingle | Hamed Esfandiari Shabnam Ansari Hossein Mohammad-Rabei Marilyn B Mets Management strategies of ocular abnormalities in patients with marfan syndrome: Current perspective Journal of Ophthalmic & Vision Research Ectopis Lentis; Management; Marfan Syndrome; Ocular Complication; Ophthalmology |
| 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 | Ectopis Lentis; Management; Marfan Syndrome; Ocular Complication; Ophthalmology |
| url | http://www.jovr.org/article.asp?issn=2008-322X;year=2019;volume=14;issue=1;spage=71;epage=77;aulast=Esfandiari |
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