Ocular ochronosis from alkaptonuria
Carlson, D.M.; Helgeson, M.K.; Hiett, J.A.
Journal of the American Optometric Association 62(11): 854-856
1991
ISSN/ISBN: 0003-0244 PMID: 1813514 Document Number: 376695
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.