Gyrate atrophy of the choroid and retina

Gyrate atrophy of the choroid and retina manifests itself by the atrophia gyrata of the choroid and retina.

The hereditary hyperornithin is induced by lack of activity of the mitochondrial ornithine aminotransferase, which catalyzes the formation of n-1-pyrroline-5-carboxylate from ornithine and alpha-ketoglutarate. As a cofactor vitamin B6 is needed. Here the disease is divided into two genetic forms, the pyridoxin-responsive and the non-pyridoxin-responsive form. Inheritance is autosomal recessive. Hyperonithin is manifested by the atrophy gyrata of the choroid and retina, with the exception of some newborns who begin with a hyperammonic coma. By the course of the disease, symptoms will lead to night blindness, myopia, and tunnel vision to blindness at the age of 40-50.

At the age of 10-20 years, the development of a subcapsular posterior cataract is common.