Abstract

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.

Highlights

  • Marfan syndrome is an autosomal dominant disease that is characterized by musculoskeletal abnormalities, cardiovascular disease, and ocular abnormalities

  • Visual function in Marfan syndrome could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma

  • It is a disorder of connective tissue protein fibrillin-1 and transforming growth factor-beta (TGF-beta) that lead to abnormal connective tissue in many organs

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Summary

Introduction

Marfan syndrome is an autosomal dominant disease that is characterized by musculoskeletal abnormalities, cardiovascular disease, and ocular abnormalities. 5 (Table 1) Almost 50% of patients are diagnosed by Marfan syndrome primarily as part of the evaluation for ophthalmic complaints.[6] Common causes of visual abnormalities in patients with the Marfan syndrome are ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma. This present review will give a brief overview of ocular features of the Marfan syndrome and discuss current management.

Long axial length strabismus
Refractive error
Retinal disease
Findings
Conclusion

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