Genetic testing for gyrate atrophy of the choroid and retina

Genetic testing for gyrate atrophy of the choroid and retina

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literatu...

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Main Authors: Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Benedetto Falsini, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2017-10-01
Series:The EuroBiotech Journal
Online Access:https://doi.org/10.24190/ISSN2564-615X/2017/S1.17
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spelling doaj-8d6587fcb50a47bfb1e23407bbbf78392021-09-05T17:19:36ZengSciendoThe EuroBiotech Journal2564-615X2017-10-011s1545610.24190/ISSN2564-615X/2017/S1.17Genetic testing for gyrate atrophy of the choroid and retinaAbeshi Andi0Fanelli Francesca1Beccari Tommaso2Dundar Munis3Benedetto Falsini4Bertelli Matteo5MAGI Balkans, Tirana, AlbaniaMAGI Euregio, Bolzano, ItalyDepartment of Pharmaceutical Sciences, University of Perugia, Perugia, ItalyDepartment of Medical Genetics, Erciyes University Medical School, Kayseri, TurkeyDepartment of Ophthalmology, Catholic University of Rome, Rome, ItalyMAGI’S Lab, Rovereto, ItalyWe studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literature there are approximately 200 biochemically confirmed cases. GACR is caused by mutations in the OAT gene. Clinical diagnosis involves ophthalmological examination, electrophysiological testing (electroretinography - ERG), coherence tomography and assay of ornithine levels in body fluids. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.https://doi.org/10.24190/ISSN2564-615X/2017/S1.17
collection DOAJ
language English
format Article
sources DOAJ
author Abeshi Andi
Fanelli Francesca
Beccari Tommaso
Dundar Munis
Benedetto Falsini
Bertelli Matteo
spellingShingle Abeshi Andi
Fanelli Francesca
Beccari Tommaso
Dundar Munis
Benedetto Falsini
Bertelli Matteo
Genetic testing for gyrate atrophy of the choroid and retina
The EuroBiotech Journal
author_facet Abeshi Andi
Fanelli Francesca
Beccari Tommaso
Dundar Munis
Benedetto Falsini
Bertelli Matteo
author_sort Abeshi Andi
title Genetic testing for gyrate atrophy of the choroid and retina
title_short Genetic testing for gyrate atrophy of the choroid and retina
title_full Genetic testing for gyrate atrophy of the choroid and retina
title_fullStr Genetic testing for gyrate atrophy of the choroid and retina
title_full_unstemmed Genetic testing for gyrate atrophy of the choroid and retina
title_sort genetic testing for gyrate atrophy of the choroid and retina
publisher Sciendo
series The EuroBiotech Journal
issn 2564-615X
publishDate 2017-10-01
description We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literature there are approximately 200 biochemically confirmed cases. GACR is caused by mutations in the OAT gene. Clinical diagnosis involves ophthalmological examination, electrophysiological testing (electroretinography - ERG), coherence tomography and assay of ornithine levels in body fluids. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.
url https://doi.org/10.24190/ISSN2564-615X/2017/S1.17
work_keys_str_mv AT abeshiandi genetictestingforgyrateatrophyofthechoroidandretina
AT fanellifrancesca genetictestingforgyrateatrophyofthechoroidandretina
AT beccaritommaso genetictestingforgyrateatrophyofthechoroidandretina
AT dundarmunis genetictestingforgyrateatrophyofthechoroidandretina
AT benedettofalsini genetictestingforgyrateatrophyofthechoroidandretina
AT bertellimatteo genetictestingforgyrateatrophyofthechoroidandretina
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