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Genetics in Cataract: To Be or Not to Be

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Genetics of Ocular Diseases

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Abstract

Gene therapy in ophthalmology is even more pertinent as the eye is relatively immunoprivileged and has well-defined anatomy. It is also accessible to different routes of administration of gene therapy. Embryology of the lens starts with the neuroectoderm stimulating the thickened surface ectoderm with transcription factors including PAX 6, Sox2, and Six3 gene to form the lens placode. The invagination later leads to the formation of the lens pit or cup that then goes on to form the lens vesicle. The posterior cells of the lens vesicle lens fibers then elongate and fill in the central forming the primary lens fibers and the nuclear bow formation occurs. Maf gene mutation may cause opaque flecks in the developmental stage here. Genetic screening to identify genes associated with cataract can be planned in different strategies like linkage analysis, genome-wide association studies (GWAS), and candidate gene analysis. Cataract loci are identified using microsatellite markers, although single-nucleotide polymorphisms (SNPs) are rapidly gaining favor. Next-generation sequencing (NGS) is also used to identify new gene mutations. Genes Underlying Isolated or Primary Inherited Cataract may be divided into four groups based on subcellular localization and/or protein function, namely, cytoplasmic crystallins, membrane proteins, cytoskeletal proteins, and DNA/RNA-binding proteins. Genes Associated with Age-Related Cataract have been identified using a candidate gene approach and have found coding and noncoding variations in some of the same genes underlying inherited cataract that are also associated with age-related cataract including EPHA2 (1p). Despite the increasing genetic heterogenicity, genetic studies in cataract are scientifically and clinically relevant. They will provide a gene centric description of known Mendelian forms of inherited cataract.

“Our own genomes carry the story of evolution, written in DNA, the language of molecular genetics, and the narrative is unmistakable.”

Kenneth R. Miller

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Author information

Authors and Affiliations

  1. Department of Clinician and Translational Scientist, Narayana Nethralaya, Bangalore, India

    Rohit Shetty

  2. Department of Cataract and Refractive Surgery, Narayana Nethralaya, Bangalore, India

    Ann Sarah Koshy

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  1. Rohit Shetty
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  2. Ann Sarah Koshy
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Editors and Affiliations

  1. Department of Ophthalmology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Madhya Pradesh, India

    H. V. Nema

  2. Department of Ophthalmology, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India

    Nitin Nema

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Shetty, R., Koshy, A.S. (2022). Genetics in Cataract: To Be or Not to Be. In: Nema, H.V., Nema, N. (eds) Genetics of Ocular Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-16-4247-0_5

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  • DOI: https://doi.org/10.1007/978-981-16-4247-0_5

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  • Print ISBN: 978-981-16-4246-3

  • Online ISBN: 978-981-16-4247-0

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