GYRATE ATROPHY ASSOCIATED WITH UNUSUAL CLINICAL AND LABORATORY FINDINGS IN 2 SIBLINGS

Gyrate atrophy is an autosomal recessive chorioretinal dystrophy cause d by a deficiency of the enzyme ornithine aminotransferase. This artic le reports on two siblings with gyrate atrophy who presented with a se vere clinical prognosis despite mildly elevated levels of plasma and u rinary ornithine. One of the patients also had bilateral anterior pola r cataracts, which has not been reported as a classic feature of the d isease. The severe prognosis, despite mildly elevated ornithine levels , suggests that the lowering of ornithine levels by dietary protein re striction is not likely to be effective in preventing disease progress ion.