Ectopia Lentis with Retinal Detachment in a Patient with Marfan Syndrome: A Case Report

Abstract

Marfan syndrome is an autosomal dominant hereditary connective tissue disease caused by mutations in the Fibrillin-1 gene located on chromosome 15q15-21. Fibrillin is a specific type of glycoprotein widely distributed throughout the body, contributing to the elasticity and load-bearing capacity of connective tissue. Marfan syndrome is a multisystem disorder that affects the cardiovascular system, musculoskeletal system, and the eyes. Patients with Marfan syndrome can experience life-threatening complications such as aortic aneurysms, aortic dissection, and mitral valve prolapse. However, most patients initially present to an ophthalmologist with ocular symptoms, necessitating the ophthalmologist to diagnose and counsel the patient about the disease and its complications. A 23-year-old female patient presented to the Ophthalmology Outpatient Department (OPD) with complaints of diminished visual acuity in both eyes since birth. The patient exhibited cataractous changes in the lens with dislocation in the superotemporal quadrant in both eyes. Furthermore, the patient experienced rhegmatogenous retinal detachment in her left eye. The patient underwent scleral belt buckling and pars plana vitrectomy with silicone oil insertion in the left eye, as well as cataract extraction with Posterior Chamber Intraocular Lens (PCIOL) implantation in the right eye. Marfan syndrome can impact visual function in various ways. The present case report underscores the ocular manifestations of Marfan syndrome and the management of patients with developmental cataracts, subluxation, and retinal detachment due to high myopia.