FP1461 : Case of homocystinuria with bilateral ectopia lentis and inferior aniridia

Dr.LISA SUNNY, L21555

Introduction :Homocystinuria is a genetically determined autosomal recessive disorder of amino acid methionine metabolism,due to mutation of gene encoding cystathionine beta synthase,resulting in systemic accumulation of methionine and homocysteine.More than half of these patients develop ectopia lentis, which is progressive.Other ocular manifestations include iris atrophy,optic atrophy,cataract ,myopia and retinal detachment.Objective:To report the case of a 9 year old male child with homocystinuria and bilateral ectopia lentis.A 9 year old child,known case of homocystinuria presented to opd with bilateral superonasal dislocation and aniridia inferiorly.Posterior segment examination was normal.Since there is a high risk of lens migration into the anterior chamber(14%) or complete posterior dislocation(19%),SFIOL was put in right eye.Patient is doing well postoperatively.