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Ophthalmic Genetic Diseases A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities

Genetic Abnormalities With Glaucoma

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Knight, ORJ; Kaleem, M; Melvani, R; Bregman, J; Hunter, T; Couser, NL
January 1, 2019

This chapter focuses on genetic diseases commonly associated with glaucoma. Glaucoma is the leading cause of irreversible blindness and the second leading cause of all types of blindness worldwide after cataracts. Genetic syndromes that are known to cause glaucoma as a main ophthalmic manifestation include Lowe oculocerebrorenal syndrome, Nail-Patella syndrome, Nance-Horan syndrome, and Rubinstein-Taybi syndrome. The chapter begins with a chapter summary followed by the listing and information of each condition and then ends with a list of references. Each condition is listed with the associated Online Mendelian Inheritance in Man (OMIM) reference number, and a brief description of the condition, disease epidemiology, eye findings associated, inheritance pattern, and the known genes or gene locus is listed.

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January 1, 2019

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99 / 106
 

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Knight, O. R. J., Kaleem, M., Melvani, R., Bregman, J., Hunter, T., & Couser, N. L. (2019). Genetic Abnormalities With Glaucoma. In Ophthalmic Genetic Diseases A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities (pp. 99–106). https://doi.org/10.1016/B978-0-323-65414-2.00007-6
Knight, O. R. J., M. Kaleem, R. Melvani, J. Bregman, T. Hunter, and N. L. Couser. “Genetic Abnormalities With Glaucoma.” In Ophthalmic Genetic Diseases A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 99–106, 2019. https://doi.org/10.1016/B978-0-323-65414-2.00007-6.
Knight ORJ, Kaleem M, Melvani R, Bregman J, Hunter T, Couser NL. Genetic Abnormalities With Glaucoma. In: Ophthalmic Genetic Diseases A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities. 2019. p. 99–106.
Knight, O. R. J., et al. “Genetic Abnormalities With Glaucoma.” Ophthalmic Genetic Diseases A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 2019, pp. 99–106. Scopus, doi:10.1016/B978-0-323-65414-2.00007-6.
Knight ORJ, Kaleem M, Melvani R, Bregman J, Hunter T, Couser NL. Genetic Abnormalities With Glaucoma. Ophthalmic Genetic Diseases A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities. 2019. p. 99–106.

DOI

Publication Date

January 1, 2019

Start / End Page

99 / 106