Dr.ayesha tanzeem

Dr.Rama Bharathi Nela

Abstract

Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine β-synthase (CBS) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine.The recalcitrant cases have a higher risk for cardiovascular diseases, neurodegenerative diseases, neural tube defects, and other severe clinical complications. This review aims to present the ophthalmic spectrum of homocystinuria,These include ectopia lentis, iridodonesis, and high myopia.The main ocular feature associated with homocystinuria is ectopia lentis