Gyrate atrophy is an autosomal recessive retinal dystrophy caused by mutation of the gene for ornithine aminotransferase (the OAT gene on chromosome 10). This results in an elevated level of ornithine in the blood, which is actually toxic to both the RPE and choroid. With destruction of the choroid vessels, these retinas develop big patches of blanching seen on exam.
Treatment is difficult … you can attempt to restrict the amount of arginine in the diet (this is very difficult to do). You can also treat with vitamin B6 which may lower plasma ornithine in a small percentage of patients.
