Neurochemistry International 1980
Gyrate atrophy of the retina and choroid is an inborn error of metabolism of ornithine aminotransferase.
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Santrauka
Gyrate atrophy of the retina and choroid is an autosomal recessive progressive retinal degeneration caused by an inborn error of metabolism of ornithine aminotransferase activity. Some cases are metabolically treatable. Carrier testing and prenatal diagnosis by amniocentesis are possible.