Klassifikation, Genetik und Epidemiologie der Glaukome

Zusammenfassung

Die Glaukome bilden eine sehr heterogene Krankheitsgruppe, der ein retinaler Ganglienzellverlust mit typischer Papillenexkavation und charakteristischen Gesichtsfeldausfällen gemeinsam ist. Glaukome sind der häufigste Grund für eine irreversible Erblindung weltweit. Dieser Beitrag gibt einen aktuellen Überblick über die Einteilung und die genetischen Grundlagen der Glaukome.

Abstract

Glaucoma is a heterogeneous group of diseases which all share retinal ganglion cell loss leading to a typical optic disc cupping and characteristic visual field defects. Glaucoma is the leading cause of irreversible blindness affecting 8.4 million people. In 2013, 65 million people suffered from glaucoma worldwide and the number will increase to about 112 million in 2040. This review provides an overview about the classification and genetic basics in glaucoma.

Schlüsselwörter

Offenwinkelglaukom - Winkelblockglaukom - kongenitales Glaukom - Epidemiologie - Genetik

Key words

open-angle glaucoma - angle-closure glaucoma - congenital glaucoma - epidemiology - genetics

• Literatur

• 1 European Glaucoma Society. Terminology and guidelines for glaucoma. 4th ed. 2014 Im Internet: http://www.eugs.org/eng/EGS_guidelines4.asp Stand: 23.03.2017
• 2 Tham YC, Li X, Wong TY. et al. Global prevalence of glaucoma and projections of glaucoma burden through 2040. Ophthalmology 2014; 121: 2081-2090
• 3 Khan AO. Genetics of primary glaucoma. Curr Opin Ophthalmol 2011; 22: 347-355
• 4 Ninios K, Jonescu-Cuypers CP, Seitz B. Glaukome bei primären Irisveränderungen. Ophthalmologe 2011; 108: 585-594
• 5 Iglesias AI, Springelkamp H, Ramdas WD. et al. Genes, pathways, and animal models in primary open-angle glaucoma. Eye 2015; 29: 1285-1298
• 6 Doucette LP, Rasnitsyn A, Seifi M. et al. The interactions of genes, age, and environment in glaucoma pathogenesis. Surv Ophthalmol 2015; 60: 310-326
• 7 Konieczka K, Flammer J. Phänomenologie und klinische Bedeutung des Flammer-Syndroms. Klin Monatsbl Augenheilkd 2016; 233: 1331-1336
• 8 Cho HK, Kee C. Population-based glaucoma prevalence studies in Asians. Surv Ophthalmol 2014; 59: 434-447
• 9 Jones R, Rhee D. Corticosteroid-induced ocular hypertension and glaucoma: a brief review and update of the literature. Curr Opin Ophthalmol 2006; 17: 163-167
• 10 Girkin CA, McGwin G, Morris R. et al. Glaucoma following penetrating ocular trauma: a cohort study of the United States Eye Injury Registry. Am J Ophthalmol 2005; 139: 100-105
• 11 Sng CCA, Ang M, Barton K. Uveitis and glaucoma: new insights in the pathogenesis and treatment. Prog Brain Res 2015; 221: 243-269
• 12 Ahram DF, Alward WL, Kuehn MH. The genetic mechanism of primary angle closure glaucoma. Eye 2015; 29: 1251-1259
• 13 Khor CC, Do T, Jia H. et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet 2016; 48: 556-562
• 14 Sklettedal JK, Sandvik L, Ringvold A. Ocular pseudoexfoliation syndrome and life span. EBioMedicine 2015; 2: 765-769
• 15 Kapetanakis VV, Chan MPY, Foster PJ. et al. Global variations and time trends in the prevalence of primary open angle glaucoma (POAG): a systematic review and meta-analysis. Br J Ophthalmol 2016; 100: 86-93
• 16 Springelkamp H, Iglesias AI, Mishra A. et al. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Hum Mol Genet 2017; 26: 438-453
• 17 Othman MI, Sullivan SA, Skuta GL. et al. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am J Hum Genet 1998; 63: 1411-1418
• 18 Nongpiur ME, Wei X, Xu L. et al. Lack of association between primary angle-closure glaucoma susceptibility loci and the ocular biometric parameters anterior chamber depth and axial length. Invest Ophthalmol Vis Sci 2013; 54: 5824-5828
• 19 Nongpiur ME, Khor CC, Jia H. et al. ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. PLoS Genet 2014; 10: e1004089
• 20 Day AC, Luben R, Khawaja AP. et al. Genotype–phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study. Br J Ophthalmol 2013; 97: 704-707
• 21 Pasquale LR, Wiggs JL, Willett WC. The relationship between caffeine and coffee consumption and exfoliation glaucoma or glaucoma suspect: a prospective study in two cohorts. Invest Ophthalmol Vis Sci 2012; 53: 6427-6433
• 22 Stein JD, Pasquale LR, Talwar N. et al. Geographic and climatic factors associated with the exfoliation syndrome. Arch Ophthalmol 2011; 129: 1053-1060
• 23 Kang JH, Loomis SJ, Wiggs JL. et al. A prospective study of folate, vitamin B6 and vitamin B12 in relation to exfoliation glaucoma or exfoliation glaucoma suspect. JAMA Ophthalmol 2014; 132: 549-559
• 24 Dewundara S, Pasquale LR. Exfoliation syndrome: a disease with an environmental component. Curr Opin Ophthalmol 2015; 26: 78-81
• 25 Thorleifsson G, Magnusson KP, Sulem P. et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317: 1397-1400
• 26 Siddiqui Y, Ten Hulzen RD, Cameron JD. et al. What is the risk of developing pigmentary glaucoma from pigment dispersion syndrome?. Am J Ophthalmol 2003; 135: 794-799