An attempt to detect the female carriers of this X-linked disease has been carried out in three families, including two whose affected male infants were subjects of the original report of this syndrome. No lens opacities were found in two sets of parents. In the third family both parents had multiple small opacities. There was no difference in the urinary amino acid response of either the mothers or the fathers to an oral ornithine loading test.

It has been concluded that neither test is reliable in the detection of the female carrier of the oculo-cerebro-renal syndrome.

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