Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.

A case of gyrate atrophy of the choroid and retina associated with hyperornithinemia has been subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acid was unique to this 28-year-old male, being absent in parents and siblings. He presented with progressive visual loss, and was found to have cataracts and large areas of peripheral lacunar atrophy. Clinically there was no other abnormality. However, he was hyperuricemic and has an abnormal EEG. Despite otherwise normal biochemical indices of hepatic, renal, and muscle function; selective catheterization of an artery, the hepatic vein, the renal vein, and a deep forearm vein showed all of these circulatory beds to be producing ornithine according to arteriovenous difference measurements. Cerebrospinal fluid and urine contained increased amounts of ornithine. Though electromyography was normal, the muscle biopsy was abnormal. Clinical tests including arginine loading, glucose tolerance testing, and other measurements of blood variables provided inferences as to the metabolic locus of the abnormality. The syndrome is a systemic multiorgan disorder in which the choroid and retina would appear to be target organs and the hyperornithinemia to be of, as yet, undetermined cause and pathogenic significance.