Refractive Alterations in Marfan Syndrome: A Narrative Review

Abstract

Marfan syndrome (MFS) is a genetic disorder that affects the connective tissue in several systems, with ocular, cardiovascular, and skeletal system manifestations. Its ocular manifestations include ectopia lentis (EL), myopia, astigmatism, and corneal abnormalities. This review examines refractive alterations related to MFS such as EL, microspherophakia, lens coloboma, altered corneal biomechanics (flattening, thinning, and astigmatism), and myopia and their impact on visual acuity. The pathogenesis of these manifestations stems from mutations in the FBN1 gene (encoding fibrillin-1). Moreover, the current medical and surgical management strategies for MFS-related refractive errors, including optical correction (eyeglasses, contact lenses, etc.), and surgical interventions like lensectomy, intraocular lens (IOL) implantation (anterior chamber, posterior chamber, scleral-fixated, iris-fixated), and the use of capsular tension rings/segments are further discussed. Considering the likelihood of underdiagnosing and underestimating ocular involvement in MFS, this updated review highlights the critical need to identify and address these refractive issues to enhance the visual outcomes for those affected.