HYPERORNITHINEMIA WITH GYRATE ATROPHY OF THE CHOROID AND RETINA

Abstract

The constant combination of 10-20 times larger as normal plasma concentration of ornithine with gyrate atrophy of the choroid and retina was seen in 18 patients, 4 of which were children. The ornithine concentration of urine, spinal fluid and aqueous humour was similarly increased. The height and weight of the patients averaged normal for the Finnish people. Liver and spleen were regularly not enlarged. Hyperammonemia was never found. The fundus of the eye was typically involved containing sharply de-fined areas of choroidal atrophy. Electroretinogram was extinguished and dark adaptation delayed, and the visual fields became extremely narrow with increasing age. All patients were high grade myops. 11 out of the 18 had slightly subnormal intelligence.The metabolic abnormality is suggested to be decreased activity of the enzyme ornithine ketoacid amino-transferase. Autosomal recessive inheritance of the syndrome is obvious.