Genetic testing for inherited eye misalignment
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Inherited eye misalignment (IEM). Forms of IEM associated with variations in the SALL4, CHN1, TUBB3 and KIF21A genes have autosomal dominant inheritance, whereas those associ...
| 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/S1.19 |
| _version_ | 1819101887784288256 |
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| author | Abeshi Andi Fanelli Francesca Beccari Tommaso Dundar Munis Colombo Leonardo Bertelli Matteo |
| author_facet | Abeshi Andi Fanelli Francesca Beccari Tommaso Dundar Munis Colombo Leonardo 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 Inherited eye misalignment (IEM). Forms of IEM associated with variations in the SALL4, CHN1, TUBB3 and KIF21A genes have autosomal dominant inheritance, whereas those associated with variations in the ROBO3, PHOX2A, HOXA1 and HOXB1 genes have autosomal recessive inheritance. The prevalence of MS is currently unknown. Diagnosis is based on clinical findings, family history, visual acuity testing and fundus examination. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials. |
| first_indexed | 2024-12-22T01:25:49Z |
| format | Article |
| id | doaj.art-87bf76181ccf4ff2818387d3bf1224aa |
| institution | Directory Open Access Journal |
| issn | 2564-615X |
| language | English |
| last_indexed | 2024-12-22T01:25:49Z |
| publishDate | 2017-10-01 |
| publisher | Sciendo |
| record_format | Article |
| series | The EuroBiotech Journal |
| spelling | doaj.art-87bf76181ccf4ff2818387d3bf1224aa2022-12-21T18:43:36ZengSciendoThe EuroBiotech Journal2564-615X2017-10-011s1606210.24190/ISSN2564-615X/2017/S1.19Genetic testing for inherited eye misalignmentAbeshi Andi0Fanelli Francesca1Beccari Tommaso2Dundar Munis3Colombo Leonardo4Bertelli 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, ASST Santi Paolo e Carlo, University of Milan, Milan, ItalyMAGI’S Lab, Rovereto, ItalyWe studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Inherited eye misalignment (IEM). Forms of IEM associated with variations in the SALL4, CHN1, TUBB3 and KIF21A genes have autosomal dominant inheritance, whereas those associated with variations in the ROBO3, PHOX2A, HOXA1 and HOXB1 genes have autosomal recessive inheritance. The prevalence of MS is currently unknown. Diagnosis is based on clinical findings, family history, visual acuity testing and fundus examination. 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/S1.19 |
| spellingShingle | Abeshi Andi Fanelli Francesca Beccari Tommaso Dundar Munis Colombo Leonardo Bertelli Matteo Genetic testing for inherited eye misalignment The EuroBiotech Journal |
| title | Genetic testing for inherited eye misalignment |
| title_full | Genetic testing for inherited eye misalignment |
| title_fullStr | Genetic testing for inherited eye misalignment |
| title_full_unstemmed | Genetic testing for inherited eye misalignment |
| title_short | Genetic testing for inherited eye misalignment |
| title_sort | genetic testing for inherited eye misalignment |
| url | https://doi.org/10.24190/ISSN2564-615X/2017/S1.19 |
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