Acute anterior uveitis as the initial presentation of alkaptonuria.

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2009-01-27
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Abstract
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage and other connective tissues. An association of the disease with uveitis has never been reported. We report the first case of alkaptonuria with ochronotic arthropathy presenting with recurrent acute anterior uveitis as the initial manifestation. The possible common link with the HLA-B27 gene is discussed.
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John SS, Padhan P, Mathews JV, David S. Acute anterior uveitis as the initial presentation of alkaptonuria. Journal of Postgraduate Medicine. 2009 Jan-Mar; 55(1): 35-7