Genetic testing for inherited eye misalignment

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...

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Main Authors: Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Colombo Leonardo, 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/S1.19
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spelling doaj-87bf76181ccf4ff2818387d3bf1224aa2021-09-05T17:19:36ZengSciendoThe 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
collection DOAJ
language English
format Article
sources DOAJ
author Abeshi Andi
Fanelli Francesca
Beccari Tommaso
Dundar Munis
Colombo Leonardo
Bertelli Matteo
spellingShingle Abeshi Andi
Fanelli Francesca
Beccari Tommaso
Dundar Munis
Colombo Leonardo
Bertelli Matteo
Genetic testing for inherited eye misalignment
The EuroBiotech Journal
author_facet Abeshi Andi
Fanelli Francesca
Beccari Tommaso
Dundar Munis
Colombo Leonardo
Bertelli Matteo
author_sort Abeshi Andi
title Genetic testing for inherited eye misalignment
title_short 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_sort genetic testing for inherited eye misalignment
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 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.
url https://doi.org/10.24190/ISSN2564-615X/2017/S1.19
work_keys_str_mv AT abeshiandi genetictestingforinheritedeyemisalignment
AT fanellifrancesca genetictestingforinheritedeyemisalignment
AT beccaritommaso genetictestingforinheritedeyemisalignment
AT dundarmunis genetictestingforinheritedeyemisalignment
AT colomboleonardo genetictestingforinheritedeyemisalignment
AT bertellimatteo genetictestingforinheritedeyemisalignment
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