Alkaptonuria: A case report

Alkaptonuria: A case report

Blog Article

Alkaptonuria is a rare cubs foam finger inborn 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 better waters xl7000 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 features in the retina is described.