Tags: Disease.
Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically it can be detected by elevated levels of ornithine in the blood. Clinically it presents initially with poor night vision which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner.
