Gyrate atrophy of the choroid and retina. The ocular disease progresses in juvenile patients despite normal or near normal plasma ornithine concentration.
Hyperornithinemia disappeared in three children with Gyrate atrophy of the choroid and retina during a low-arginine diet for 3 to 4 1/2 years. Because of the young age of the patients, we had an exceptional opportunity to follow the progression of the disease during this period. Despite the excellent biochemical control, electroretinographic changes progressed in two patients, and the chorioretinal atrophy progressed steadily in all the patients throughout the diet. Dark adaptation and color vision remained stable. In these patients, the normo-ornithinemia has not been able to halt the progression of the chorioretinal degeneration.
Vannas-Sulonen
K
K
Department of Ophthalmology, University of Helsinki, Finland.
Simell
O
O
Sipilä
I
I
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics* / Q000473:pathology; D001120:Arginine / Q000008:administration & dosage; D001284:Atrophy; D002648:Child; D002829:Choroid / Q000473:pathology*; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D009952:Ornithine / Q000097:blood*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D012160:Retina / Q000473:pathology*; D000637:Transaminases / Q000172:deficiency*; D014792:Visual Acuity
D001120:Arginine; D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase