ALKAPTONURIA: A CASE REPORT

Alkaptonuria: A case report

Alkaptonuria: A case report

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Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate tokidoki hello kitty blind box 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 chervo jacke herren this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.

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