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  • Title: Ocular ochronosis from alkaptonuria.
    Author: Carlson DM, Helgeson MK, Hiett JA.
    Journal: J Am Optom Assoc; 1991 Nov; 62(11):854-6. PubMed ID: 1813514.
    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.
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