From the Guidelines
Marfan syndrome can cause vision changes, including ectopia lentis, where the lens of the eye becomes displaced, typically downward and outward, and patients should see an ophthalmologist immediately if they notice any vision changes. This displacement occurs because Marfan syndrome affects connective tissue throughout the body, including the ligaments that hold the lens in place, as noted in the 2010 guidelines for the diagnosis and management of patients with thoracic aortic disease 1. When these ligaments weaken, the lens can shift from its normal position, leading to blurred vision, double vision, or a sudden change in vision quality.
Key Points to Consider
- Ectopia lentis is a sensitive and fairly specific ocular manifestation of Marfan syndrome, as stated in the guidelines 1.
- Patients with Marfan syndrome are at risk of other eye complications, including early cataracts, glaucoma, and retinal detachment.
- Regular eye examinations are essential for people with Marfan syndrome to monitor for lens displacement and other eye complications.
- Treatment options depend on the severity and may include corrective lenses, eye drops, or in some cases, surgical intervention.
Importance of Early Detection
Early detection and management of vision issues can help preserve eyesight and improve quality of life for those with Marfan syndrome. The guidelines emphasize the importance of relating aortic measurements to normal values based on age and body surface area, and similarly, regular monitoring of eye health is crucial for patients with Marfan syndrome 1. By prioritizing eye health and seeking immediate medical attention if vision changes occur, individuals with Marfan syndrome can minimize the risk of long-term vision problems and maintain their overall quality of life.
From the Research
Vision Changes in Marfan Syndrome
- Marfan syndrome (MFS) is an autosomal dominantly inherited disorder that affects the cardiovascular, ocular, and musculoskeletal systems, and can cause various vision changes 2.
- Ocular abnormalities in MFS can include ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma, which can affect visual function in several ways 3.
- Ectopia lentis is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of cases, and can lead to vision changes such as blurred vision, double vision, and sensitivity to light 3.
- A 10-year follow-up study found that 70% of MFS patients were diagnosed with ectopia lentis, and that there was a 13% risk of developing ectopia lentis over a decade, highlighting the importance of long-term monitoring of vision changes in MFS patients 4.
- Vision changes in MFS can also be caused by other factors such as progressive myopia and secondary lens-induced angle closure crisis, which can lead to angle closure and vision loss if left untreated 5.
- In some cases, MFS can cause refractory glaucoma, which can require surgical treatment with lensectomy, vitrectomy, and drainage device implantation to avoid devastating progression toward glaucomatous optic atrophy 6.
Management of Vision Changes in Marfan Syndrome
- Management of ocular conditions in MFS may range from simple observation to surgical intervention, and current options include correction of refractive error with eyeglasses, aphakic Artisan lens implantation, and surgical removal of the subluxated lens 2, 3.
- The best method for visual rehabilitation after lens extraction is still debated, and studies with longer term follow-up and larger sample populations are needed to evaluate the safety of these procedures in patients with MFS 3.
- A comprehensive ocular examination is essential for MFS patients, and should include evaluation of ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma, as well as monitoring of vision changes over time 4.