Copper metabolism in retinitis pigmentosa.
Clinically and electrophysiologically confirmed cases of primary retinitis pigmentosa have been investigated regarding their copper metabolic state. It is observed that these patients show a normal or near normal serum copper concentration, very low plasma caeruloplasmin concentration, and a very high copper urinary excretion. A similarity between this condition and hepatolenticular degeneration is drawn and it is suggested that retinitis pigmentosa may also be a condition caused by an inborn error of copper metabolism.
D000293:Adolescent; D000328:Adult; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000097:blood / Q000378:metabolism* / Q000652:urine; D005260:Female; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000378:metabolism*
D003300:Copper; D002570:Ceruloplasmin