DR. NEHA VYAS

DR. SNEHA MAKHIJA, DR. SUVIRA JAIN

Abstract

Alkaptonuria is a rare autosomal recessive inherited disease with a mutation in homogentisate 1,2-dioxygenase (HGD) gene. It results in accumulation of homogentisic acid in connective tissues such as cartilage, tendons and ligaments(ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report we report a 70-year-old Indian male who presented with advanced ocular changes as the presenting symptom. We highlight the importance of prompt diagnosis and multidisciplinary approach towards management of a patient with alkaptonuria.