Marfan syndrome is an autosomal dominant genetic disorder caused by the misfolding of the protein fibrillin-1. It is also a connective tissue disorder with varied expressions in the body with systemic and ocular involvement.
The major ocular finding of Marfan syndrome (MFS) is ectopia lentis, and approximately 60% of patients have lens dislocation, which is usually superior and temporal; this may be present at birth or develop during childhood or adolescence. At least two minor criteria must be present for consideration as ocular involvement: an abnormally flat cornea, increased axial length, or hypoplasia of the ciliary muscle or iris, causing decreased mydriasis. The diagnosis is based on a combination of typical symptoms, a family history of MFS and genetic testing, according to the Ghent criteria.
Lens abnormalities such as subluxation, dislocation, coloboma and ectopia lentis are usually seen. They may be unilateral or bilateral.
Lenticular abnormalities arise due to quantitative and qualitative abnormalities in the zonules, as demonstrated in some studies. Increased lenticular sphericity is seen due to decreased traction of zonules on the lens, leading to induced myopia apart from axial myopia. Get the whole story