TY - JOUR
T1 - Management strategies of ocular abnormalities in patients with marfan syndrome
T2 - Current perspective
AU - Esfandiari, Hamed
AU - Ansari, Shabnam
AU - Mohammad-Rabei, Hossein
AU - Mets, Marilyn
N1 - Publisher Copyright:
© 2019 Journal of Ophthalmic and Vision Research | Published by Wolters Kluwer - Medknow.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Ectopis Lentis
KW - Management
KW - Marfan Syndrome
KW - Ocular Complication
KW - Ophthalmology
UR - http://www.scopus.com/inward/record.url?scp=85061321486&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061321486&partnerID=8YFLogxK
U2 - 10.4103/jovr.jovr_29_18
DO - 10.4103/jovr.jovr_29_18
M3 - Article
C2 - 30820290
AN - SCOPUS:85061321486
SN - 2008-2010
VL - 14
SP - 71
EP - 77
JO - Journal of Ophthalmic and Vision Research
JF - Journal of Ophthalmic and Vision Research
IS - 1
ER -