Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration. Much remains unknown about the pathophysiolog...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
German Medical Science GMS Publishing House
2020-02-01
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| Series: | GMS Ophthalmology Cases |
| Subjects: | |
| Online Access: | http://www.egms.de/static/en/journals/oc/2020-10/oc000131.shtml |