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BRIEF COMMUNICATION
Year : 2017  |  Volume : 65  |  Issue : 6  |  Page : 518-521

Alkaptonuria: A case report


Department of Ophthalmology, Apollo Institute of Medical Sciences and Research, Jubilee Hills, Hyderabad, Telangana, India

Correspondence Address:
Nirupama Damarla
Flat No. 201, Apex Apartments, AC Guards, Hyderabad, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_337_16

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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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