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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.
AuthorsD M Carlson, M K Helgeson, J A Hiett
JournalJournal of the American Optometric Association (J Am Optom Assoc) Vol. 62 Issue 11 Pg. 854-6 (Nov 1991) ISSN: 0003-0244 [Print] United States
PMID1813514 (Publication Type: Case Reports, Journal Article)
Topics
  • Aged
  • Alkaptonuria (complications)
  • Humans
  • Male
  • Ochronosis (etiology)
  • Scleral Diseases (etiology)
  • Visual Acuity

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