Alkaptonuria: A case report
Alkaptonuria: A case report
Blog Article
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance 7 Piece Dining Room 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 male patient with additional ocular MAG-K-TAURINE features in the retina is described.