Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders
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Mahavir Singh. Eye and Vision Science Laboratory, Department of Physiology, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. mahavir.singh@louisville.edu

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Supported in part by NIH Heart, Lung, and Blood Institute (No.HLO74815); Institute of Neurological Disorders and Stroke (No.NS-084823).

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    Abstract:

    Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can influence vision and health of our eyes. Based on these findings, it is becoming clear that an early diagnosis employing genetic testing can help evaluate patients’ conditions for instituting treatment plan(s) and follow-up care to avoid vision complications later. For example, knowing family history becomes crucial for inherited eye diseases as it can benefit members in family who may have similar eye diseases or predispositions. Therefore, gathering information from an elaborate examination along with complete assessment of past medical illness by ophthalmologists followed by consultation with geneticists can help create a roadmap for making diagnosis and treatment precise and beneficial. In this review, we present an update on ocular genomic medicine that we believe has tremendous potential towards unraveling genetic implications in ocular diseases and patients’ susceptibilities. We also discuss translational aspects of genetic ophthalmology and genome engineering that may help advance molecular diagnostics and therapeutics.

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Mahavir Singh, Suresh C Tyagi. Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders. Int J Ophthalmol, 2018,11(1):117-134

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Publication History
  • Received:January 17,2017
  • Revised:October 31,2017
  • Adopted:
  • Online: January 09,2018
  • Published: