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October 1959, Vol 62, No. 4 >
ARTICLE | October 1959

Hereditary Alkaptonuria with Ochronosis

JOSEPH L. HATCH, M.D.
AMA Arch Ophthalmol. 1959;62(4):575-578. doi:10.1001/archopht.1959.04220040037005.
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Ochronosis is a rare condition in which eye findings are almost always present.1 This disease has not been stressed in ophthalmological literature, but its detection is a matter of considerable importance. Skinsnes2 reported a tragic case where a man's only eye (the other one was lost after an injury) was needlessly removed because of suspected melanoma of the uvea. This eye had medial and lateral pigmentations of the globe such as are found in ochronosis. No tumor was found. The patient died one year later of bronchopneumonia, and the diagnosis of ochronosis was proved at autopsy.

Hereditary alkaptonuria is characterized by the excretion of homogentisic acid in the urine because of a block in the metabolic breakdown of tyrosine to carbon dioxide and water.

There may be no symptoms, but about one-half of the cases have deposition of Considerable amounts of pigment in the tissues, called ochronosis.

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