Gyrus atrophy of the choroid and retina. A case presentation

Abstract

Gyrus atrophy is a rare autosomal recessive hereditary disease secondary to a mutation of the OAT gene on chromosome 10 which results in a deficiency of the mitochondrial enzyme ornithine aminotransferase that causes a 20-fold increase in serum concentrations of the amino acid ornithine. The disease is characterized by atrophic choroid and retinal patches that begin in the peripheral retina in the first decade and later spread centrally to the macular area, causing cystic changes and posterior subcapsular cataracts. The clinical picture is characterized by night blindness, constriction of the visual field and finally decreased central vision and blindness. In this article, we present the case of a 53-year-old woman with no significant hereditary antecedents who presented a decrease in visual acuity after several months of evolution.