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The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases

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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

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Abstract

Vision is one of the most important senses of human beings. It is estimated that 285 million people worldwide suffer from visual impairments. Although the etiology of visual impairments is both complex and multifactorial, genetic factors have been shown to play important roles. Both common and rare genetic variants have been associated with various types of inherited visual disorders. Studying the genetics of visual impairments can help to confirm or to refine clinical diagnosis, lead to better prognosis, guide the family planning, and allow targeted treatment(s). Recently developed next generation sequencing technology can generate enormous amount of sequencing data quickly at relatively low cost, and has great advantages compared to other sequencing methods. Due to the clinical and genetic heterogeneity of human visual disorders, next generation sequencing technology is a useful tool for the molecular diagnosis. In this review, we will discuss specifically the application of next generation sequencing in the molecular diagnosis of visual disorders with monogenic or oligogenic inheritance.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Xia Wang Ph.D. & Richard Alan Lewis M.D., M.S.

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  1. Xia Wang Ph.D.
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  2. Richard Alan Lewis M.D., M.S.
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Correspondence to Xia Wang Ph.D. .

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  1. Molecular Diagnostic Laboratory, Baylor College of Medicine, Houston, Texas, USA

    Lee-Jun C. Wong

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Wang, X., Lewis, R.A. (2017). The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases. In: Wong, LJ. (eds) Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56418-0_4

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