About 80% of patients have ectopia lentis
, which is usually bilateral, symmetrical and upward.
Eye involvement in the syndrome occurs in two forms; namely major and minor, where ectopia lentis
is in the major category.
Different surgical techniques for the management of ectopia lentis
have been reported such as lensectomy and anterior chamber IOL implantation, open loop3,4 or scleral fixation of IOL implant(SF-IOL).
Cardinal features of the disorder include tall stature, ectopia lentis
, mitral-valve prolapsed, aortic-root dilatation, and aortic dissection (Collod-Beroud and Boileau, 2002).
Differential diagnoses of ectopia lentis
also include trauma, syphilis, sulfite oxidase deficiency, and Weill--Marchesani syndrome.
In the absence of findings that are not expected in [Marfan syndrome], the combination of ectopia lentis
and aortic root enlargement/dissection should be sufficient to make the diagnosis," the authors wrote, noting that all other cardiovascular and ocular manifestations of the condition, as well as findings in the skeleton, dura, skin, and lungs, "contribute to a systemic score that guides diagnosis when aortic disease is present but ectopia lentis
However, patients with ectopia lentis
, who participate in endurance running, are at chronic risk of exacerbating their lens malposition.
Marfan syndrome is a disorder of connective tissue and is associated with ectopia lentis
, flat cornea, increased axial length of globe, hypoplastic iris or hypoplastic ciliary muscles, and various skeletal abnormalities.
Identification of FBN1 gene mutations in patients with ectopia lentis
and marfanoid habitus.
Additionally, at least 1 of the following major manifestations must be present: ectopia lentis
, aortic dilatation/dissection and dural ectasia.
Tsipouras P, Del Mastro R, Sarfarazi M, et al: Genetic linkage of the Marfan syndrome, ectopia lentis
, and congenital contractural arachnodactyle to the fibrilling genes on chromosomes 15 and 5.
Homocystinuria causes mental retardation ectopia lentis
osteoporosis, and thromboembolism.
One case is that of ectopia lentis
as the result of familial traits alone, without involvement of other systems.