Ocular findings in patients with gyrate atrophy on pyridoxine and low-protein, low-arginine diets.
Five patients, ages 12 to 30, with gyrate atrophy have shown substantial (60% or greater) decreases in plasma ornithine concentrations within four to eight weeks when placed on a therapeutic trial of low-protein (10-15 g/day), low-arginine diets supplemented with essential amino acids (EAA) and pyridoxine hydrochloride. Four of five patients have continued on modified protein restriction (20-35 g/day) and one on pyridoxine (300 mg/day) alone with maintenance of plasma ornithine in the range of 30 to 60% below pretherapeutic trial levels. After one year, four of five patients have shown no significant improvement in visual acuity, fields, final dark-adapted thresholds, electroretinograms, or fundus appearance. One patient with the poorest control of plasma ornithine has developed a decrease in ERG amplitudes and a new area of chorioretinal atrophy. These patients continue in this trial to determine whether or not any reductions in hyperornithinemia will modify the course of the ocular disease.
D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000008:administration & dosage; D001284:Atrophy; D002648:Child; D002829:Choroid; D003623:Dark Adaptation; D004044:Dietary Proteins / Q000008:administration & dosage*; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D009952:Ornithine / Q000097:blood; D011736:Pyridoxine / Q000627:therapeutic use*; D012162:Retinal Degeneration / Q000178:diet therapy / Q000235:genetics*; D014603:Uveal Diseases / Q000178:diet therapy / Q000235:genetics; D014786:Vision Disorders / Q000178:diet therapy*; D014792:Visual Acuity; D014794:Visual Fields
D004044:Dietary Proteins; D001120:Arginine; D009952:Ornithine; D011736:Pyridoxine