Copper metabolism study in oculocutaneous albinism.

Abstract

Abnormal copper metabolism has been described in some pigmentary retinopathies. Albinism is a manifestation of a metabolic disorder in which lack of pigmentation is a prominent feature and changes in the retinal pigment epithelium are found as well. We examined the blood and urine of two groups of patients, albino and control groups, for copper, zinc and ceruloplasmin in serum and copper excretion in urine. We found in the albino group, elevated values of ceruloplasmin which was highly significant when compared to the control group. The mean copper concentration in serum was found to be high as well. The urinary copper was distinctly elevated in four patients of the albino group. Therefore, our results suggest that there might be a primary abnormality of copper metabolism in these patients.