Displaced Lenses and Beyond: Marfan syndrome in an 8 year old girl, the truth uncovered: A case report

Abstract

Marfan syndrome is an inherited connective tissue disorder characterized by mutations in the FBN1 gene leading to systemic manifestations involving the cardiovascular, skeletal, and ocular systems. This case highlights an 8-year-old female with a family history of consanguinity who presented with progressive, painless bilateral vision diminution since childhood. Clinical examination revealed marfanoid features and ocular assessment showed bilateral infero-temporal lens subluxation. Systemic evaluation indicated mitral valve prolapse with mild regurgitation and early diastolic murmur heard at apex. The patient was further worked up for systemic evaluation by pediatric and cardiology departments.