Gyrate Atrophy of the choroida and the retina is a rare autosomal recessive retinal dystrophy characterized by progressive chorioretinal degeneration, early cataract formation and myopia.
It is caused by a deficiency in the enzyme ornithine aminotransferase (OAT), which results in a 10- to 20-fold increase in plasma ornithine concentrations.
Patients classically present in the first decade of life with nyctalopia, with fundus exam revealing characteristic circular patches of chorioretinal atrophy distributed in the peripheral fundus.
