{"title":"旋回萎缩样表型，血浆鸟氨酸正常，血浆牛磺酸低。","authors":"Aubhugn T Labiano, Milagros H Arroyo","doi":"10.3205/oc000131","DOIUrl":null,"url":null,"abstract":"<p><p>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 pathophysiologic mechanism underlying gyrate-like chorioretinal atrophy. The concomitant occurrence of GA-like phenotype and hypotaurinemia suggests a possible future avenue for research on this matter.</p>","PeriodicalId":73178,"journal":{"name":"GMS ophthalmology cases","volume":"10 ","pages":"Doc04"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113615/pdf/","citationCount":"0","resultStr":"{\"title\":\"Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine.\",\"authors\":\"Aubhugn T Labiano, Milagros H Arroyo\",\"doi\":\"10.3205/oc000131\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 pathophysiologic mechanism underlying gyrate-like chorioretinal atrophy. The concomitant occurrence of GA-like phenotype and hypotaurinemia suggests a possible future avenue for research on this matter.</p>\",\"PeriodicalId\":73178,\"journal\":{\"name\":\"GMS ophthalmology cases\",\"volume\":\"10 \",\"pages\":\"Doc04\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113615/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"GMS ophthalmology cases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3205/oc000131\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"GMS ophthalmology cases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3205/oc000131","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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 pathophysiologic mechanism underlying gyrate-like chorioretinal atrophy. The concomitant occurrence of GA-like phenotype and hypotaurinemia suggests a possible future avenue for research on this matter.
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