[Hyperornithinaemia in patients with retinal dystrophy].
BACKGROUND
In our clinic for low vision we have treated 4 patients with advanced retino-choroidal dystrophy. The patients showed concentric narrowing of the visual field and alterations of the ERG.Confluent degenerative areas slightly resembled those seen in gyrate atrophy.For this reason we determined the serum levels of ornithine which were found to be elevated to twice the normal level, but never as high as described for the typical form of gyrate atrophy.


METHODS
The patients were three females 58-76 years old and the 11-year-old grandson of one of them. We analysed ornithine levels in the corresponding blood serum.


RESULTS
The results were 2.8 mg/dl, 2.0 mg/dl, 2.6 mg/dl and 3.6 mg/dl, respectively (normal value: 1.8 microg/dl).


CONCLUSIONS
In classic gyrate atrophy the ornithine levels are much higher. Consequently we are dealing with a biochemically and symptomatically different disease or with a mild form of gyrate atrophy. Narrowing of the visual field and ERG alterations indicate a retinal dystrophy. The determination of ornithine levels does not yet belong to our clinical routine. This report is intended to enlarge the possibilities for differential diagnosis and to offer a therapy for the 11-year-old boy by giving him vitamin B6 or a special diet.
Mayer
U M
UM
Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg, Erlangen. ursula.mayer@augen.imed.uni-erlangen.de
D000368:Aged; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D015799:Gyrate Atrophy / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009952:Ornithine / Q000097:blood*; D015792:Retinal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D058609:Visual Field Tests
D009952:Ornithine