Alkaptonuria: A case report

Alkaptonuria: A case report

Blog Article

Alkaptonuria is a rare inborn read more error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase.It results in accumulation of homogentisic acid in connective tissues (ochronosis).Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera.In this case report, a 39-year-old Indian here male patient with additional ocular features in the retina is described.