From the Guidelines
Marfan syndrome can cause significant vision changes, most notably lens dislocation (ectopia lentis), which is a sensitive and fairly specific finding for the condition, as noted in the 2010 guidelines for the diagnosis and management of patients with thoracic aortic disease 1.
Key Vision Changes
- Lens dislocation (ectopia lentis) is a common and significant vision issue, causing blurred or double vision
- Severe nearsightedness (myopia), astigmatism, early cataracts, and glaucoma can also occur
- Regular eye examinations with an ophthalmologist are crucial, typically recommended annually, to detect and manage these vision problems
Importance of Early Detection
Early detection and management of vision changes are vital to prevent complications such as retinal detachment or glaucoma, which can lead to permanent vision loss.
Underlying Cause
The vision changes in Marfan syndrome occur due to the effects of the condition on fibrillin-1, a protein essential for connective tissue strength and elasticity, including tissues in the eye that hold the lens in place and maintain proper eye shape, as discussed in the guidelines 1.
From the Research
Vision Changes in Marfan Syndrome
- Marfan syndrome is a genetic disorder that affects the connective tissue in the body, including the eyes 2.
- Ocular abnormalities are common in Marfan syndrome, with ectopia lentis (dislocation of the lens) being a hallmark feature, occurring in 60% to 80% of cases 3.
- Other ocular features of Marfan syndrome include increased axial length, astigmatism, and flat cornea 3.
- Visual function in Marfan syndrome can be affected by various factors, including ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma 3.
Retinal Detachment in Marfan Syndrome
- Retinal detachment is a known complication of Marfan syndrome, with a high incidence of bilaterality (69% of patients) 4.
- The clinical characteristics of retinal detachments in Marfan syndrome include total retinal detachment, atrophic holes, multiple retinal breaks, and proliferative vitreoretinopathy 5, 6.
- Surgical outcomes for retinal detachment in Marfan syndrome have been reported, with complete retinal reattachment achieved in 75% to 89% of cases 4, 5, 6.
- Visual acuity improvement has been reported in patients with Marfan syndrome who undergo surgical repair of retinal detachment, with final visual acuity of 20/200 or better achieved in 56% to 81% of cases 4, 6.
Management of Ocular Abnormalities in Marfan Syndrome
- Management of ocular abnormalities in Marfan syndrome may range from simple observation to surgical intervention 2.
- Correction of refractive error with eyeglasses or contact lenses may be sufficient in mild cases of ectopia lentis, while surgical removal of the subluxated lens may be necessary in more severe cases 3.
- Aphakic Artisan lens implantation at the time of subluxated lens removal has been reported to result in good visual outcomes with an acceptable safety profile 3.