DR. JEOTSNA RAJPUT

Dr. Shama Parveen, DR. TANMAY SRIVASTAV, Dr. DEEPAK MISHRA

Abstract

Purpose: Marfan syndrome is autosomal dominant multisystem disorder of connective tissue occurring in 8-10 per1lac population/year.Purpose of this case report was to demonstrate ocular and systemic characteristics in 15year young female.Methods:She presented with diminution in vision both eyes since childhood.The patient underwent detailed general and ophthalmic examination including vision,slit lamp,fundus and radiological and cardiovascular investigations.Results:General examination revealed tall thin stature along with long and thin extremities and elongated fingers and toes.On ocular examination bilateral superotemporal subluxation of lens was noted.On systemic investigations mild tricuspid regurgitation and elongated metacarpals were seen.Conclusion:On basis of examination she was diagnosed with Marfan syndrome. Early detection of this condition is required to reduce problems like squint,retinal detachment,poor vision and to decrease mortality due to cardiovascular abnormality.