Answers are grounded in this paper and cite their sources.
Review summarizes ocular features, focusing on ectopia lentis in Marfan syndrome, highlighting management challenges.
INTRODUCTION Marfan syndrome is a systemic connective tissue disease caused by pathogenic variants in the FBN1 gene and associated with significant cardiovascular, skeletal, and ocular morbidity. Ocular manifestations are among the earliest and most recognizable features of the condition. Consequently, a thorough understanding of the ocular features of Marfan syndrome is critical for facilitating its early diagnosis and guiding appropriate management of its ophthalmic complications.AREAS COVERED This review summarizes the ocular manifestations of Marfan syndrome with special emphasis on ectopia lentis. A literature search was conducted using major biomedical databases including PubMed and Google Scholar, focusing on peer-reviewed articles and reviews published recently in additional to landmark earlier studies that shaped current understanding of the ocular phenotype.EXPERT OPINION The diagnosis and management of ocular manifestations in Marfan syndrome remain challenging due to the variability of the phenotype, the lack of standardized diagnostic thresholds for ocular parameters, and the absence of consensus regarding optimal surgical management of ectopia lentis and aphakia. Continued advances in genetic testing, imaging technologies, and prospective clinical studies are needed to improve diagnostic accuracy and guide evidence-based management strategies.
No takes yet. Share an insight, caveat, or question.
Salloukh et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: