Marfan syndrome in an Iranian family: a case series

ABSTRACT

Marfan syndrome [MFS] is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family [father, two daughters, three sons, and six grandchildren] had MFS. Lens ectopia was the most common ophthalmic involvement among the family [100%]. Other ocular involvements were as follows; Hypoplastic iris or ciliary's muscle hypoplasia [50%], on gated eyeball [42%], flat cornea [30%], glaucoma and cataract [25%], retinal detachment [16%]. Three members of the family underwent eye surgery including lens extraction, glaucoma surgery and retinal surgery