Ocular complications in patients with Marfan syndrome - considerations on two clinical cases

Abstract

Introduction: Marfan syndrome is an autosomal dominant connective tissue disorder due to mutations in the fibrillin 1 gene (15 q21.1). Ocular features are highly variable and may be complicated by blindness. Ectopia lentis (subluxation of lens) is a hallmark feature of Marfan syndrome (according to international Ghent criteria) and is present in approximately 60% to 80% of patients; in most cases it is found until the age of 10. Materials and methods: The authors present two clinical cases of 2 children with predetermined Marfan syndrome with bilateral ectopia lentis, admitted to the Medical Center Ophthalmology "Ovisus". Results: In the 1st case both eyes underwent extracapsular lens extraction by phacoaspiration with a scleral fixated capsular tension ring (right eye) and a non-sutured capsular tension ring (left eye) and primary implantation of lOL (26,OD for RE and 27,OD for LE, AcrySof IQ) in the capsular bag. In the 2nd case, the bilateral lens dislocation was treated by lensectomy with primary implantation of scleral fixation IOL (18,0D for the right eye, 24,0 D for the left eye). Discussion: Ophthalmologists play an important role in detecting Marfan syndrome. The diagnosis and management of the many associated ocular disorders is challenging. Patients should be instructed to seek immediate ophthalmological consultation if light flashes, floaters or any sudden decrease of vision occur. Timely diagnosis and treatment of refractive problems, retinal detachment and glaucoma can prevent amblyopia and help to preserve sight in patients with this syndrome. Conclusions: Management of ocular complications in Marfan syndrome must be multidisciplinary and include a treatment plan tailored to each individual’s manifestations. Due to zonular reliability and resulting capsular instability, the correction of the aphakia with intraocular lens implantation in lens subluxation is a challenge. In some cases, subluxation can be compensated by optical correction, but this does not prevent other complications. Surgery, though difficult, provides an improved, stable visual acuity, preventing amblyopia (in children). At the moment, one of the methods of choice is extraction of subluxated lens with capsular ring placement (with or without scleral fixation) and primary implantation of the IOL in the capsular bag. Eye control is performed annually and assesses intraocular pressure, peripheral retina, the optic nerve and refractive disorders.