title: Ocular ochronosis from alkaptonuria.
abstract: Alkaptonuria is an extremely rare, autosomal recessive disorder in which the metabolic enzyme homogentisic acid oxidase is deficient. A common sequelae is the subsequent accumulation of homogentisic acid in collagenous tissues, such as the sclera, nose and ear lobes. The blue-black pigmentation found in patients with alkaptonuria is called ochronosis. Another ocular sign includes amber-colored oil globulation within Bowmans membrane of the cornea.
authors.affiliation: Heartland Eye Care, Park River, ND 58270.
authors.forename: D M
authors.initials: DM
authors.lastname: Carlson
authors.forename: M K
authors.initials: MK
authors.lastname: Helgeson
authors.forename: J A
authors.initials: JA
authors.lastname: Hiett
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000150:complications*; D006801:Humans; D008297:Male; D009794:Ochronosis / Q000209:etiology*; D015422:Scleral Diseases / Q000209:etiology*; D014792:Visual Acuity