Gyrate atrophy of the retina is a blinding human disease characterized by progressive retinal degeneration, autosomal recessive inheritance, and increased blood and urine ornithine. This study seeks an efficient diagnosis, an understanding of the pathophysiology of the eye disease, and proper guidelines for management of patients with this disease. Diagnosis will be improved by developing a better assay for ornithine ketoacid transaminase, the missing enzyme in this inborn error or metabolism. This assay will be used to separate different types of gyrate atrophy of the retina. The pathophysiology of the disease will be studied by histologic examination of eyes affected with gyrate atrophy and by biochemical investigation of the metabolic effects of the enzyme deficiency. Management will be studied by a therapeutic trial of vitamin B6.
NIH ExPorter
NIH ExPorter