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 pathophysiologi...

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Autores principales: Labiano, Aubhugn T., Arroyo, Milagros H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: German Medical Science GMS Publishing House 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113615/
https://www.ncbi.nlm.nih.gov/pubmed/32269902
http://dx.doi.org/10.3205/oc000131
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author Labiano, Aubhugn T.
Arroyo, Milagros H.
author_facet Labiano, Aubhugn T.
Arroyo, Milagros H.
author_sort Labiano, Aubhugn T.
collection PubMed
description 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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spelling pubmed-71136152020-04-08 Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine Labiano, Aubhugn T. Arroyo, Milagros H. GMS Ophthalmol Cases Article 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. German Medical Science GMS Publishing House 2020-02-27 /pmc/articles/PMC7113615/ /pubmed/32269902 http://dx.doi.org/10.3205/oc000131 Text en Copyright © 2020 Labiano et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Labiano, Aubhugn T.
Arroyo, Milagros H.
Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
title Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
title_full Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
title_fullStr Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
title_full_unstemmed Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
title_short Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
title_sort gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113615/
https://www.ncbi.nlm.nih.gov/pubmed/32269902
http://dx.doi.org/10.3205/oc000131
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