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Gyrate Atrophy of the Retina and Choroid. Two Methods for Prenatal Diagnosis

Overview
Journal Int Ophthalmol
Specialty Ophthalmology
Date 1981 Aug 1
PMID 7298261
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Abstract

We report two methods for prenatal diagnosis of gyrate atrophy of the retina and choroid caused by an inborn error of ornithine aminotransferase activity. A high pressure liquid chromatography assay measures ornithine aminotransferase accurately and directly in cultured amniotic fluid cells. The differential incorporation of 14C-ornithine and 3H-leucine into cell protein measures OAT directly but rapidly and simply.

References
1.
Deutman A, Sengers R, Trybels J . Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency. Int Ophthalmol. 1978; 1(1):49-56. DOI: 10.1007/BF00133277. View

2.
ODonnell J, SANDMAN R, Martin S . Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase. Science. 1978; 200(4338):200-1. DOI: 10.1126/science.635581. View

3.
Valle D, Del Valle L . A specific enzyme defect in gyrate atrophy. Am J Ophthalmol. 1978; 85(2):200-4. DOI: 10.1016/s0002-9394(14)75948-3. View

4.
Shih V, Schulman J . Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture. Clin Chim Acta. 1970; 27(1):73-5. DOI: 10.1016/0009-8981(70)90376-1. View

5.
McCULLOCH J, Arshinoff S, Marliss E, Parker J . Hyperornithinemia and gyrate atrophy of the choroid and retina. Ophthalmology. 1978; 85(9):918-28. DOI: 10.1016/s0161-6420(78)35598-6. View