Marfan Syndrome
- Autosomal dominant disorder marked by tallness and long limbs
- Caused by mutation in FBN1 gene responsible for elastic fiber strength
- Chief concern: heart valve degeneration, aortic aneurysm, aortic dissection
- Principal ophthalmic manifestation: dislocated crystalline lens ("ectopia lentis")
- Dislocated crystalline lens in 80% of cases
- Usually dislocated superotemporally
- Dislocation visible only with slit lamp biomicroscopy through dilated pupil, which shows...
- Exposed lens zonules: elastic fibers extending radially toward the lens margin and suspending the lens from the ciliary muscle like a hammock
- Direct trauma to eye, which can cause lens dislocation
- Homocystinuria, but lens dislocation is inferonasal
- Refer patients with suspected Marfan syndrome for ophthalmological examination
- Marked lens dislocation may create blurred vision, so that...
- Lens extraction necessary if optical measures do not work
- Retinal detachment and glaucoma may occur independently of lens dislocation