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Original Article

Variable Clinical Spectrum of the Myocilin Gln368X Mutation in a Dutch Family with Primary Open Angle Glaucoma

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Pages 31-36 | Received 15 Feb 2009, Accepted 29 Sep 2009, Published online: 18 Dec 2009

REFERENCES

  • Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006;90:262–267.
  • Quigley HA,Vitale S. Models of open-angle glaucoma prevalence and incidence in the United States. Invest Ophthalmol Vis Sci 1997;38:83–91.
  • Weinreb RN, Friedman DS, Fechtner RD, et al. Risk assessment in the management of patients with ocular hypertension. Am J Ophthalmol 2004;138:458–467.
  • Mackey DA, Craig JE. Predictive DNA testing for glaucoma: Reality in 2003. Ophthalmol Clin North Am 2003;16:639–645.
  • Iliev ME, Bodmer S, Gallati S, et al. Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation. Eye 2008;22:880–888.
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
  • Mikelberg FS, Parfitt CM, Swindale NV, et al. Ability of the Heidelberg Retina Tomograph to detect early glaucomatous field loss. J Glaucoma 1995;4:242–247.
  • Wollstein G, Garway-Heath DF, Hitchings RA. Identification of early glaucoma cases with the scanning laser ophthalmoscope. Ophthalmology 1998;105:1557–1563.
  • Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004;13 Spec No 1:R91–R102.
  • Allingham RR, Wiggs JL, De La Paz MA, et al. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998;39:2288–2295.
  • Angius A, Spinelli P, Ghilotti G, et al. Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. Arch Ophthal 2000;118:674–679.
  • Craig JE, Baird PN, Healey DL, et al. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology 2001;108:1607–1620.
  • Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899–905.
  • Baird PN, Craig JE, Richardson AJ, et al. Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. Hum Genet 2003;112:110–116.
  • Cobb CJ, Scott G, Swingler RJ, et al. Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma. Br J Ophthalmol 2002;86:191–195.
  • Faucher M, Anctil JL, Rodrigue MA, et al. Founder TIGR/myocilin mutations for glaucoma in the Quebec population. Hum Mol Genet 2002;11:2077–2090.
  • Baird PN, Richardson AJ, Mackey DA, et al. A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families. Am J Ophthalmol 2005;140:760–762.
  • Miglior S, Guareschi M, Albe E, et al. Detection of glaucomatous visual field changes using the Moorfields regression analysis of the Heidelberg retina tomograph. Am J Ophthalmol 2003;136:26–33.
  • Mardin CY, Junemann AG. The diagnostic value of optic nerve imaging in early glaucoma. Curr Opin Ophthalmol 2001;12:100–104.
  • Baird PN, Richardson AJ, Craig JE, et al. The Q368STOP myocilin mutation in a population-based cohort: The Blue Mountains Eye Study. Am J Ophthalmol 2005;139:1125–1126.
  • Mackey DA. Gillies lecture: Dissecting glaucoma: Understanding the molecular risk factors. Clin Experiment Ophthalmol 2008;36:403–409.
  • Allingham RR, Liu Y, Rhee DJ. The genetics of primary open angle-glaucoma: A review. Exp Eye Res 2008; Nov 14. Epub ahead of print.
  • Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998;338:1022–1027.
  • Hodapp E, Parrish RK, Andersson DR. Clinical Decisions in Glaucoma. St Louis: CV Mosby Company, 1993.

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