Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.
OBJECTIVE
To determine whether the long-term reduction of plasma ornithine levels by way of an arginine-restricted diet in patients with gyrate atrophy will slow the progression of this chorioretinal degeneration.


METHODS
Natural history study of 2 pairs of siblings with gyrate atrophy treated with an arginine-restricted diet.


METHODS
Fundus photography and electrophysical and psychophysical retinal function tests.


RESULTS
After 16 to 17 years of receiving an arginine-restricted diet, the younger sibling in each pair, who was prescribed the diet at an earlier age than the older sibling, demonstrated a slower progression of lesions compared with the older sibling.


CONCLUSIONS
If started at an early age, long-term substantial reduction of plasma ornithine levels may appreciably slow the progression of the chorioretinal lesions and, to a lesser extent, the progressive loss of retinal function in patients with gyrate atrophy.
Kaiser-Kupfer
Muriel I
MI
NEI-NIH, 10 Center Dr MSC 1860, Bldg 10, Room 10N226, Bethesda, MD 20892-1860, USA. kaiserm@nei.nih.gov
Caruso
Rafael C
RC
Valle
David
D
D000328:Adult; D001120:Arginine / Q000008:administration & dosage; D015862:Choroid Diseases / Q000097:blood / Q000178:diet therapy / Q000503:physiopathology*; D018753:Diet, Protein-Restricted; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D015799:Gyrate Atrophy / Q000097:blood / Q000178:diet therapy / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009679:Nuclear Family; D009952:Ornithine / Q000097:blood*; D010375:Pedigree; D010781:Photography; D012164:Retinal Diseases / Q000097:blood / Q000178:diet therapy / Q000503:physiopathology*; D014792:Visual Acuity; D014794:Visual Fields
D001120:Arginine; D009952:Ornithine