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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Authors | D M Carlson, M K Helgeson, J A Hiett |
Journal | Journal of the American Optometric Association
(J Am Optom Assoc)
Vol. 62
Issue 11
Pg. 854-6
(Nov 1991)
ISSN: 0003-0244 [Print] United States |
PMID | 1813514
(Publication Type: Case Reports, Journal Article)
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Topics |
- Aged
- Alkaptonuria
(complications)
- Humans
- Male
- Ochronosis
(etiology)
- Scleral Diseases
(etiology)
- Visual Acuity
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