title: Acute anterior uveitis as the initial presentation of alkaptonuria.
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.
authors.affiliation: Department of Ophthalmology, Christian Medical College, Vellore, India. sheejajohn@rediffmail.com
authors.forename: S S
authors.initials: SS
authors.lastname: John
authors.forename: P
authors.initials: P
authors.lastname: Padhan
authors.forename: J V
authors.initials: JV
authors.lastname: Mathews
authors.forename: S
authors.initials: S
authors.lastname: David
mesh_terms: D000208:Acute Disease; D000474:Alkaptonuria / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D000975:Antioxidants / Q000627:therapeutic use; D001205:Ascorbic Acid / Q000627:therapeutic use; D003937:Diagnosis, Differential; D015796:HLA-B27 Antigen / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009184:Mydriatics; D009794:Ochronosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D025242:Spondylarthropathies / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D014606:Uveitis, Anterior / Q000209:etiology*
chemical_list: D000975:Antioxidants; D015796:HLA-B27 Antigen; D009184:Mydriatics; D001205:Ascorbic Acid