FP555

TITLE-CASE REPORT- MARFAN SYNDROME

Name: PBN, 16 years / Male came with diminution of vision in both eyes since childhood, gradual in onset painless and progressive in nature. History of decreased vision in his father since his childhood and has undergone both eye surgery with ? IOL Implantation at 35 years of age. Inheritance pattern in marfan syndrome noted. Thin built, asthenic with malar hypoplasia, Crowding of teeth,High arched palate, Steinberg sign and Wrist sign,Joint laxity, Long slender fingers,Flat feet and Long extremities,Ejection systolic murmur+, RE- CF2mt,LE-CF1mt,Right inferior and left inferotemporal subluxation of lens(OS-NS 1),Iridodonesis and phacodonesis ,OS- myopic fundus Homocystine : 42.09 pg/ml, ECHO showed Myomatous thickening of the mitral valve with mild prolapse, aortic sinus dilated with root dilatation , Ao root- 3.7mm- z score + 4.02, aortic annulus 2.3cm z score + 2.75.