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Other Tests in Glaucoma: Genetic Testing

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Abstract

One of the goals of human genetic research is to develop novel diagnostic and screening tests based on the identification of the genes responsible for the disease. Over the past decade ten genes have been shown to contribute to various forms of human ­glaucoma including: primary open angle glaucoma (MYOC, OPTN, WDR36, OPA1), glaucoma associated with Axenfeld–Rieger syndrome and other anterior segment dysgenesis disorders (FOXC1, PITX2, PAX6, LMX1B), congenital glaucoma (CYP1B1), and most recently pseudoexfoliation glaucoma (LOXL1) [1–5].

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References

  1. Wiggs JL. (2007) Genetic etiologies of glaucoma. Arch Ophthalmol. 125:30–37.

    Article  PubMed  CAS  Google Scholar 

  2. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. (2007) Common sequence variants in the LOXL1 gene confer susceptilbity to exfoliation glaucoma. Science. 317:1397–1400.

    Article  PubMed  CAS  Google Scholar 

  3. Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE. (2007) Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet. 17:710–716.

    Article  PubMed  Google Scholar 

  4. Fingert JH, Alward WL, Kwon YH, Wang K, Streb LM, Sheffield VC, Stone EM. (2007) LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol. 144:974–975.

    Article  PubMed  Google Scholar 

  5. Fan BJ, Pasquale L, Grosskreutz CL, Rhee D, Chen T, Deangelis MM, Kim I, Del Bono E, Miller JW, Li T, Haines JL, Wiggs JL. (2008) DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet. 9:5.

    Article  PubMed  Google Scholar 

  6. Libby RT, Gould DB, Anderson MG, John SW. (2005) Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet. 6:15–44.

    Article  PubMed  CAS  Google Scholar 

  7. Robinson DO, Howarth RJ, Williamson KA, Van Heyningen V, Beal SJ, Crolla JA. (2008) Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. 146(5): 558–569.

    Google Scholar 

  8. Mimiwati Z, Mackey DA, Craig JE, Mackinnon JR, Rait JL, Liebelt JE, Ayala-Lugo R, Vollrath D, Richards JE. (2006) Nail-patella syndrome and its association with glaucoma: a review of eight families. Br J Ophthalmol. 90:1505–1509.

    Article  PubMed  CAS  Google Scholar 

  9. Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. (2002) Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 120:1189–1197.

    Article  PubMed  CAS  Google Scholar 

  10. Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, Patterson K, Babb VL, Del Bono EA, Broomer BW, Pericak-Vance MA, Haines JL. (1998) Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet. 63:1549–1552.

    Article  PubMed  CAS  Google Scholar 

  11. Chakrabarti S, Kaur K, Kaur I, Mandal AK, Parikh RS, Thomas R, Majumder PP. (2006) Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest Ophthalmol Vis Sci. 47:43–77.

    Article  PubMed  Google Scholar 

  12. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 9:367–374.

    Article  PubMed  CAS  Google Scholar 

  13. Aung T, Rezaie T, Okada K, Viswanathan AC, Child AH, Brice G, Bhattacharya SS, Lehmann OJ, Sarfarazi M, Hitchings RA. (2005) Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Invest Ophthalmol Vis Sci. 46:2816–2822.

    Article  PubMed  Google Scholar 

  14. Hauser MA, Sena DF, Flor J, Walter J, Auguste J, Larocque-Abramson K, Graham F, Delbono E, Haines JL, Pericak-Vance MA, Rand Allingham R, Wiggs JL. (2006) Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. J Glaucoma. 15:358–363.

    Article  PubMed  Google Scholar 

  15. Liu Y, Schmidt S, Qin X, Gibson J, Munro D, Wiggs JL, Hauser MA, Allingham RR. (2007) No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. Mol Vis. 13:2137–2141.

    PubMed  Google Scholar 

  16. Hauser MA, Allingham RR, Linkroum K, Wang J, Larocque-Abramson K, Figueiredo D, Santiago-Turla C, Del Bono EA, Haines JL, Pericak-Vance MA, Wiggs JL. (2006) Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 47:2542–2546.

    Article  PubMed  Google Scholar 

  17. Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz Al, Downs CA, Vollrath D, Richards JE. (2000) Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 130:165–177.

    Article  PubMed  CAS  Google Scholar 

  18. Hansen TV, Simonsen MK, Nielsen FC, Hundrup YA. (2007) Collection of blood, saliva, and buccal cell samples in a pilot study on the Danish nurse cohort: comparison of the response rate and quality of genomic DNA. Cancer Epidemiol Biomarkers Prev. 16:2072–2076.

    Article  PubMed  CAS  Google Scholar 

  19. Brooks BP, Macdonald IM, Tumminia SJ, Smaoui N, Blain D, Nezhuvingal AA, Sieving PA; National Ophthalmic Disease Genotyping Network (eyeGENE). (2008) Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol. 126(3):424–425.

    Article  PubMed  Google Scholar 

  20. Hewitt AW, Mackey DA, Craig JE. (2008) Myocilin allele-specific glaucoma phenotype database. Hum Mutat. 29:207–211.

    Article  PubMed  CAS  Google Scholar 

  21. Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA, Broomer B, Jones KH, Del Bono EA, Kern J, Patterson K, Haines JL, Pericak-Vance MA. (1998) Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 39:2288–2295.

    PubMed  CAS  Google Scholar 

  22. Simm RM, Fingert JH, Craig JE, Mcnaught AI, Mackey DA. (1999) Normal range of hearing associated with myocilin Thr377Met. Ophthalmic Genet. 20:205–207.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Janey L. Wiggs .

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Wiggs, J.L. (2010). Other Tests in Glaucoma: Genetic Testing. In: Giaconi, J., Law, S., Coleman, A., Caprioli, J. (eds) Pearls of Glaucoma Management. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-68240-0_18

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  • DOI: https://doi.org/10.1007/978-3-540-68240-0_18

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