title: Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle.
abstract: We studied 21 patients with gyrate atrophy of the choroid and retina and hyperornithinemia. Although the patients were not weak, type 2 muscle fibers were almost universally atrophic and had tubular aggregates. Gyrate atrophy is the first disease in which females are shown to have tubular aggregates; the sexes were affected equally. In gyrate atrophy the number of type 2 fibers decreases with age. The muscle and eye changes are probably related to abnormal creatine synthesis, caused, in gyrate atrophy, by the increased body pool of ornithine; muscle abnormalities may also be present in other tapetoretinal dystrophies.
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure; D009133:Muscular Atrophy / Q000097:blood* / Q000473:pathology*; D009952:Ornithine / Q000097:blood*; D012164:Retinal Diseases / Q000097:blood / Q000473:pathology*; D014603:Uveal Diseases / Q000097:blood / Q000473:pathology*
chemical_list: D009952:Ornithine