Gyrate atrophy of choroid associated with hyperornithinaemia: report of the first case in Italy.
The first case in Italy and the youngest case in the world of gyrate atrophy of the choroid associated with hyperornithinaemia is reported. A therapeutical attempt has been made and the possibility of following the evolution of the ocular lesion is very interesting.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000097:blood; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009952:Ornithine / Q000097:blood* / Q000652:urine; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D014603:Uveal Diseases / Q000150:complications / Q000175:diagnosis / Q000473:pathology
D000596:Amino Acids; D009952:Ornithine