Marfan Syndrome: Advanced Imaging Diagnosis, Ectopia Lentis, and Clinical Insights
Introduction Marfan syndrome is one of the most clinically significant hereditary connective tissue disorders, with profound implications across cardiovascular, ocular, and musculoskeletal systems. In modern clinical practice, medical imaging—especially MRI and ophthalmologic imaging—plays a pivotal role in early diagnosis and long-term monitoring. This column presents a case-based, imaging-centered deep dive into Marfan syndrome, optimized for both clinical professionals and advanced blog readers , integrating radiologic interpretation, pathophysiology, and evidence-based management . Case Overview: Progressive Visual Loss in Marfan Syndrome Figure 1. Axial T2-weighted Orbital MRI Bilateral posterior dislocation of the crystalline lenses into the vitreous cavity is observed. The lenses appear as hypointense oval structures displaced posteriorly, confirming ectopia lentis , a hallmark of Marfan syndrome. Figure 2. Normal Orbital MRI Anatomy Normal anatomical positioning of the ...