Abstract

Inherited eye diseases are a group of conditions with genetic and phenotypic heterogeneity. Advances in ocular genetic research have provided insights into the genetic basis of many eye diseases. Genetic and technological progress is improving the management and care of patients with inherited eye diseases. Diagnostic laboratories continue to develop strategies with high specificity and sensitivity that reduce the costs and time required for genetic testing. The introduction of next generation sequencing technologies has significantly advanced the identification of new gene candidates and has expanded the scope of genetic testing. Gene therapy offers an important opportunity to target causative genetic mutations. There are clinical trials of treatments involving vector-based eye gene therapies, and a significant number of loci and genes now have a role in the diagnosis and treatment of human eye diseases. Applied genetic technology heralds the development of individualized treatments, ushering ophthalmology into the field of personalized medicine. Many therapeutic strategies have demonstrated efficacy in preclinical studies and have entered the clinical trial phase. In this paper we review the topic of genetic testing in inherited eye diseases. We provide some background information about genetic counseling and genetic testing in ophthalmology and discuss how genetic testing can be helpful to patients and families with inherited eye diseases.

Details

Title
Genetic testing in translational ophthalmology
Author
Abeshi, Andi 1 ; Precone, Vincenza 2 ; Beccari, Tommaso 3 ; Dundar, Munis 4 ; Falsini, Benedetto 5 ; Bertelli, Matteo 6 

 MAGI Balkans, Tirana, Albania; MAGI’S Lab, Rovereto, Italy 
 MAGI Euregio, Bolzano, Italy 
 Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy 
 Department of Medical Genetics, Erciyes University Medical School, Kayseri, Turkey 
 Department of Ophthalmology, Catholic University of Rome, Rome, Italy 
 MAGI’S Lab, Rovereto, Italy; MAGI Euregio, Bolzano, Italy 
Pages
1-5
Publication year
2017
Publication date
2017
Publisher
De Gruyter Poland
e-ISSN
2564615X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3156966169
Copyright
© 2017. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.