Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.

The inheritance of the autosomal recessive type of gyrate atrophy of the choroid and retina seems well documented (Botermans, I 972), but the aetiology of the disease is still unknown. Animal experiments and some disturbances of lipid, carbohydrate, and protein metabolism connected with chorio-retinal degenerations in man support the possibility of an enzymatic disorder as an aetiological factor of these diseases (Franceschetti, Fran§ois, and Babel, I963; FranSois, I964). The present author recently diagnosed gyrate atrophy of the choroid and retina in an 8-year-old boy in whom an enlarged lysine-ornithine spot was found on the urine highvoltage electrophorogram in routine examination of urinary amino-acids. Further studies identified that the spot was ornithine. The plasma ornithine concentration was more than ten times higher than normal, although normal amounts of the other plasma aminoacids were present. A constant correlation between hyperornithinaemia and gyrate atrophy of the choroid and retina was then detected in nine other patients (Simell and Takki, I973). The purpose of this paper is to describe the different forms of gyrate atrophy found in a total of fifteen patients and to discuss the correlation of fundus changes with hyperornithinaemia.