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Genetics of Glaucoma

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Albert and Jakobiec's Principles and Practice of Ophthalmology

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Abstract

A family history of glaucoma is a recognized disease risk factor, and recent studies suggest that glaucoma is one of the most heritable of all human diseases (Youngblood H, Hauser MA, Liu Y, Exp Eye Res 188:107795, 2019; Wang K, Gaitsch H, Poon H, Cox NJ, Rzhetsky A, Nat Genet 49(9):1319–1325, 2017). Glaucoma can be inherited as a Mendelian single gene disorder, caused by a single gene defect, or as a complex trait that results from the interactions of multiple genes and environmental factors. In general, the early-onset (childhood) forms of glaucoma are inherited as Mendelian autosomal dominant or recessive traits, while the adult-onset diseases are inherited as complex traits. Genes that predispose to glaucoma may influence intraocular pressure or degeneration of the optic nerve or both.

The types of glaucoma inherited as Mendelian traits include juvenile open-angle glaucoma; congenital glaucoma; developmental glaucomas, including Rieger’s syndrome and aniridia; and familial normal tension glaucoma (Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH, Hum Mol Genet 26(R1):R28–R36, 2017; Sears NC, Boese EA, Miller MA, Fingert JH, Exp Eye Res 186:107702, 2019). Complex forms of glaucoma include pigmentary glaucoma, primary open-angle glaucoma, angle-closure glaucoma, and exfoliation glaucoma (Wiggs JL, Pasquale LR, Hum Mol Genet 26(R1):R21–R27, 2017.). Genes and loci identified for these forms of glaucoma are discussed.

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Authors and Affiliations

  1. Mass Eye and Ear, Harvard Medical School, Boston, MA, USA

    Janey L. Wiggs

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  1. Janey L. Wiggs
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Correspondence to Janey L. Wiggs .

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  1. Department of Ophthalmology, Oregon Health & Science University Department of Ophthalmology, Portland, OR, USA

    Daniel Albert

  2. Massachusetts Eye and Ear, Boston, MA, USA

    Joan Miller

  3. Department of Ophthalmology, University of Illinois at Chicago Department of Ophthalmology, Chicago, IL, USA

    Dimitri Azar

  4. Department of Ophthalmology, Harvard Medical School, Boston, MA, USA

    Lucy H. Young

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  1. New York Eye and Ear Infirmary of Mount Sinai, New York, USA

    James C. Tsai

  2. Department of Ophthalmology, Stanford University, Palo Alto, USA

    Yang Sun

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Wiggs, J.L. (2020). Genetics of Glaucoma. In: Albert, D., Miller, J., Azar, D., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-319-90495-5_165-1

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  • DOI: https://doi.org/10.1007/978-3-319-90495-5_165-1

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  • Print ISBN: 978-3-319-90495-5

  • Online ISBN: 978-3-319-90495-5

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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