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  • Title: Alkaptonuria: A case report.
    Author: Damarla N, Linga P, Goyal M, Tadisina SR, Reddy GS, Bommisetti H.
    Journal: Indian J Ophthalmol; 2017 Jun; 65(6):518-521. PubMed ID: 28643719.
    Abstract:
    Alkaptonuria is a rare 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 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.
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