Clinical profile and outcome of ocular manifestation in Marfans syndrome in India

Abstract

Purpose: Marfan syndrome (MFS) is a genetic disorder associated with considerable morbidity and mortality. Presently, well-documented information on this condition is not available in India. Methods: In this retrospective cohort study, we recruited patients with clinically diagnosed MFS who presented to the outpatient department using revised Ghent nosology. We retrieved complete ophthalmic information, including vision, anterior and posterior segments, exported from electronic medical records, and relevant investigations, surgical details, and follow-up data were obtained in a specific, pretested format. Results: Our cohort consisted of 86 eyes of 43 patients and had a male preponderance. The prevalence was 20.5 per 100,000 individuals. The mean age of the patients was 23.9 years. All eyes were treated either optically with refraction or surgically using lensectomy and vitrectomy with suture supported scleral fixated intraocular lens (IOL), which significantly affected the visual outcome (P = 0.000). Conclusion: Although considered a rare disease, MFS is commonly found in the ophthalmological setting. Refraction and surgery (lensectomy with scleral fixated IOL) may improve the vision significantly.

Management of a Bilateral Ectopia Lentis in a Patient with Marfan Syndrome: A Case Report

“…Ectopia lentis is observed in 50% to 80% of Marfan syndrome cases, frequently presenting as the primary clinical manifestation [3].…”

Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study

“…Ectopia lentis is a hallmark ocular feature of MFS, which refers to the displacement or dislocation of the eye's natural lens from its normal position in the eye. Many studies have reported that myopia and ectopia lentis are the most prevalent ocular signs of MFS, observed in over 60% of the cases 21,22 . Other notable observations include early and severe myopia, retinal detachment, cataracts, glaucoma, flat cornea, and iris hypoplasia 22 .…”

“…Many studies have reported that myopia and ectopia lentis are the most prevalent ocular signs of MFS, observed in over 60% of the cases. 21,22 Other notable observations include early and severe myopia, retinal detachment, cataracts, glaucoma, flat cornea, and iris hypoplasia. 22 The high prevalence of ocular FBN1 is a large ECM protein that plays an important role in the formation and maintenance of elastic fibers.…”

“…21,22 Other notable observations include early and severe myopia, retinal detachment, cataracts, glaucoma, flat cornea, and iris hypoplasia. 22 The high prevalence of ocular FBN1 is a large ECM protein that plays an important role in the formation and maintenance of elastic fibers. Elastic fibers are a primary component of connective tissues such as the skin, blood vessels, and lungs and provide elasticity and resilience to these tissues.…”

“…Many studies have reported that myopia and ectopia lentis are the most prevalent ocular signs of MFS, observed in over 60% of the cases. 21 , 22 Other notable observations include early and severe myopia, retinal detachment, cataracts, glaucoma, flat cornea, and iris hypoplasia. 22 The high prevalence of ocular manifestations in our patients was consistent with well‐established patterns of MFS, underscoring the necessity for regular ophthalmic evaluations in individuals with suspected or confirmed MFS.…”