Genetic testing for Stargardt macular dystrophy
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 pe...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-10-01
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| Series: | The EuroBiotech Journal |
| Online Access: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.33 |
| _version_ | 1830508939637161984 |
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| author | Abeshi Andi Zulian Alessandra Beccari Tommaso Dundar Munis D’Esposito Fabiana Bertelli Matteo |
| author_facet | Abeshi Andi Zulian Alessandra Beccari Tommaso Dundar Munis D’Esposito Fabiana Bertelli Matteo |
| author_sort | Abeshi Andi |
| collection | DOAJ |
| description | We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 per 10 000 live births. It is caused by variations in the ABCA4, CNGB3, ELOVL4, PRPH2 and PROM1 genes. Clinical diagnosis is based on ophthalmological examination, fluorescein angiography, electroretinography, visual field testing, optical coherence tomography and color testing. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials. |
| first_indexed | 2024-12-22T01:25:55Z |
| format | Article |
| id | doaj.art-9b0d0246dcc042e8bc4f26192656eb5e |
| institution | Directory Open Access Journal |
| issn | 2564-615X |
| language | English |
| last_indexed | 2024-12-22T01:25:55Z |
| publishDate | 2017-10-01 |
| publisher | Sciendo |
| record_format | Article |
| series | The EuroBiotech Journal |
| spelling | doaj.art-9b0d0246dcc042e8bc4f26192656eb5e2022-12-21T18:43:36ZengSciendoThe EuroBiotech Journal2564-615X2017-10-011s110510710.24190/ISSN2564-615X/2017/S1.33Genetic testing for Stargardt macular dystrophyAbeshi Andi0Zulian Alessandra1Beccari Tommaso2Dundar Munis3D’Esposito Fabiana4Bertelli Matteo5MAGI Balkans, Tirana, AlbaniaMAGI Euregio, Bolzano, ItalyDepartment of Pharmaceutical Sciences, University of Perugia, Perugia, ItalyDepartment of Medical Genetics, Erciyes University Medical School, Kayseri, TurkeyHead and Neck Department, School of Medicine and Surgery, University of Naples “Federico II”, Napoli, ItalyMAGI’S Lab, Rovereto, ItalyWe studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 per 10 000 live births. It is caused by variations in the ABCA4, CNGB3, ELOVL4, PRPH2 and PROM1 genes. Clinical diagnosis is based on ophthalmological examination, fluorescein angiography, electroretinography, visual field testing, optical coherence tomography and color testing. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.https://doi.org/10.24190/ISSN2564-615X/2017/S1.33 |
| spellingShingle | Abeshi Andi Zulian Alessandra Beccari Tommaso Dundar Munis D’Esposito Fabiana Bertelli Matteo Genetic testing for Stargardt macular dystrophy The EuroBiotech Journal |
| title | Genetic testing for Stargardt macular dystrophy |
| title_full | Genetic testing for Stargardt macular dystrophy |
| title_fullStr | Genetic testing for Stargardt macular dystrophy |
| title_full_unstemmed | Genetic testing for Stargardt macular dystrophy |
| title_short | Genetic testing for Stargardt macular dystrophy |
| title_sort | genetic testing for stargardt macular dystrophy |
| url | https://doi.org/10.24190/ISSN2564-615X/2017/S1.33 |
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