The interactions of genes, age, and environment in glaucoma pathogenesis

Survey of Ophthalmology

Volumn 60, Issue 4, 2015, Pages 310-326

  Doucette, Lance P ^a   Rasnitsyn, Alexandra ^a   Seifi, Morteza ^a   Walter, Michael A ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Excitotoxicity; Genetics; IOP; Mechanical stress; Neuroprotection; Oxidative stress

Indexed keywords

AMINO ACID DERIVATIVE; BETAXOLOL; BIMATOPROST; BRIMONIDINE; CARTEOLOL; CHROMOSOME PROTEIN; CORTICOSTEROID DERIVATIVE; CYTOCHROME P450 1B1; GLUTAMIC ACID; HYDROCORTISONE; LATANOPROST; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; MEMANTINE; MYOCILIN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NEUROTROPHIN 4; OPTINEURIN; PROTEIN ASB10; PROTEIN LMX1B; PROTEIN LOXL1; PROTEIN LYSINE 6 OXIDASE; PROTEIN WDR36; REACTIVE OXYGEN METABOLITE; TAFLUPROST; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PITX2; TRAVOPROST; UBIDECARENONE; UNCLASSIFIED DRUG; UNINDEXED DRUG;

CELL STRESS; CONGENITAL GLAUCOMA; DEGENERATIVE DISEASE; DIABETES MELLITUS; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL FACTOR; ENVIRONMENTAL STRESS; EXCITOTOXICITY; EXOME; GENE INTERACTION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GLAUCOMA; HUMAN; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; ISCHEMIA; LOW TENSION GLAUCOMA; MECHANICAL STRESS; MOLECULAR MECHANICS; MOLECULAR PATHOLOGY; NONHUMAN; ONSET AGE; OPEN ANGLE GLAUCOMA; OXIDATIVE STRESS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; REVIEW; RISK ASSESSMENT; SMOKING; GENETIC PREDISPOSITION; GENOTYPE ENVIRONMENT INTERACTION; PATHOLOGY; RETINA GANGLION CELL; RISK FACTOR;

AGE OF ONSET; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; GLAUCOMA; HUMANS; OXIDATIVE STRESS; RETINAL GANGLION CELLS; RISK FACTORS;

EID: 84947935564     PISSN: 00396257     EISSN: 18793304     Source Type: Journal    
DOI: 10.1016/j.survophthal.2015.01.004     Document Type: Review

References (261)

1. Acharya M., Mookherjee S., Bhattacharjee A., et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006, 12:399-404.
2. Ali M., McKibbin M., Booth A., et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009, 84:664-671.
3. Almasieh M., Wilson A.M., Morquette B., et al. The molecular basis of retinal ganglion cell death in glaucoma. Prog Retin Eye Res 2012, 31:152-181.
4. Alsbirk P.H. Corneal thickness. II. Environmental and genetic factors. Acta Ophthalmol (Copenh) 1978, 56:105-113.
5. Alward W.L., Kwon Y.H., Kawase K., et al. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol 2003, 136:904-910.
6. Alward W.L., Semina E.V., Kalenak W., et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger Syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998, 125:98-100.
7. Anborgh P.H., Godin C., Pampillo M., et al. Inhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurin. J Biol Chem 2005, 280:34840-34848.
8. Argus W.A. Ocular hypertension and central corneal thickness. Ophthalmology 1995, 102:1810-1812.
9. Arjamaa O., Nikinmaa M. Oxygen-dependent diseases in the retina: role of hypoxia-inducible factors. Exp Eye Res 2006, 83:473-483.
10. Armaly M.F. Genetic determination of cup/disc ratio of the optic nerve. Arch Ophthalmol 1967, 78:35-43.
11. Armaly M.F. The genetic determination of ocular pressure in the normal eye. Arch Ophthalmol 1967, 78:187-192.
12. Aung T., Ebenezer N.D., Brice G., et al. Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing. J Med Genet 2003, 40:e101.
13. Awadalla M.S., Burdon K.P., Souzeau E., et al. Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. JAMA Ophthalmol 2014, 132:970-977.
14. Azmanov D.N., Dimitrova S., Florez L., et al. LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. Eur J Hum Genet 2011, 19:326-333.
15. Babizhayev M.A., Yegorov Y.E. Senescent phenotype of trabecular meshwork cells displays biomarkers in primary open-angle glaucoma. Curr Mol Med 2011, 11:528-552.
16. Barnes N.Y., Li L., Yoshikawa K., et al. Increased production of amyloid precursor protein provides a substrate for caspase-3 in dying motoneurons. J Neurosci 1998, 18:5869-5880.
17. Bayer A.U., Ferrari F. Severe progression of glaucomatous optic neuropathy in patients with Alzheimer's disease. Eye (Lond) 2002, 16:209-212.
18. Bayer A.U., Ferrari F., Erb C. High occurrence rate of glaucoma among patients with Alzheimer's disease. Eur Neurol 2002, 47:165-168.
19. Bennett T.M., Mackay D.S., Siegfried C.J., et al. Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma. PLoS One 2014, 9:e104000.
20. Berry F.B., Skarie J.M., Mirzayans F., et al. FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A. Hum Mol Genet 2008, 17:490-505.
21. Bhattacharjee A., Banerjee D., Mookherjee S., et al. Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis 2008, 14:841-850.
22. Blanks J.C., Hinton D.R., Sadun A.A., et al. Retinal ganglion cell degeneration in Alzheimer's disease. Brain Res 1989, 501:364-372.
23. Bonovas S., Peponis V., Filioussi K. Diabetes mellitus as a risk factor for primary open-angle glaucoma: a meta-analysis. Diabet Med 2004, 21:609-614.
24. Bossy-Wetzel E., Schwarzenbacher R., Lipton S.A. Molecular pathways to neurodegeneration. Nat Med 2004, 10(Suppl):S2-S9.
25. Budenz D.L., Anderson D.R., Feuer W.J., et al. Detection and prognostic significance of optic disc hemorrhages during the Ocular Hypertension Treatment Study. Ophthalmology 2006, 113:2137-2143.
26. Burr J.M., Mowatt G., Hernandez R., et al. The clinical effectiveness and cost-effectiveness of screening for open angle glaucoma: a systematic review and economic evaluation. Health Technol Assess 2007, 11:1-190. iii-iv, ix-x.
27. Caixeta-Umbelino C., de Vasconcellos J.P., Costa V.P., et al. Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. Ophthalmic Genet 2009, 30:13-18.
28. Caprioli J., Coleman A.L. Intraocular pressure fluctuation a risk factor for visual field progression at low intraocular pressures in the Advanced Glaucoma Intervention Study. Ophthalmology 2008, 115:1123-1129 e1123.
29. Chakrabarti S., Devi K.R., Komatireddy S., et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci 2007, 48:5439-5444.
30. Chakrabarti S., Rao K.N., Kaur I., et al. The LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas. Invest Ophthalmol Vis Sci 2008, 49:2343-2347.
31. Chalasani M.L., Radha V., Gupta V., et al. A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. Invest Ophthalmol Vis Sci 2007, 48:1607-1614.
32. Challa P., Schmidt S., Liu Y., et al. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol Vis 2008, 14:146-149.
33. Chang T.C., Congdon N.G., Wojciechowski R., et al. Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population. Ophthalmology 2005, 112:1186-1191.
34. Charliat G., Jolly D., Blanchard F. Genetic risk factor in primary open-angle glaucoma: a case-control study. Ophthalmic Epidemiol 1994, 1:131-138.
35. Chen H., Weber A.J. BDNF enhances retinal ganglion cell survival in cats with optic nerve damage. Invest Ophthalmol Vis Sci 2001, 42:966-974.
36. Chen J., Cai S.P., Yu W., et al. Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma. Mol Vis 2011, 17:1431-1435.
37. Chen M., Wu J., Liang N., et al. Identification of a novel SBF2 frameshift mutation in Charcot-Marie-Tooth disease type 4B2 using whole-exome sequencing. Genomics Proteomics Bioinformatics 2014, 12:221-227.
38. Chen S.D., Wang L., Zhang X.L. Neuroprotection in glaucoma: present and future. Chin Med J (Engl) 2013, 126:1567-1577.
39. Chen W., Feng Y., Chen D., et al. Rab11 is required for trans-Golgi network-to-plasma membrane transport and a preferential target for GDP dissociation inhibitor. Mol Biol Cell 1998, 9:3241-3257.
40. Chen Y., Lin Y., Vithana E.N., et al. Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. Nat Genet 2014, 46:1115-1119.
41. Chumbley L.C., Brubaker R.F. Low-tension glaucoma. Am J Ophthalmol 1976, 81:761-767.
42. Clermont A.C., Bursell S.E. Retinal blood flow in diabetes. Microcirculation 2007, 14:49-61.
43. Clough M.V., Hamlington J.D., McIntosh I. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. Hum Mutat 1999, 14:459-465.
44. Comparison of glaucomatous progression between untreated patients with normal-tension glaucoma and patients with therapeutically reduced intraocular pressures. Am J Ophthalmol 1998, 126:487-497. Collaborative Normal-Tension Glaucoma Study Group.
45. Copt R.P., Thomas R., Mermoud A. Corneal thickness in ocular hypertension, primary open-angle glaucoma, and normal tension glaucoma. Arch Ophthalmol 1999, 117:14-16.
46. Cubey R.B. Glaucoma following the application of corticosteroid to the skin of the eyelids. Br J Dermatol 1976, 95:207-208.
47. Danesh-Meyer H.V. Neuroprotection in glaucoma: recent and future directions. Curr Opin Ophthalmol 2011, 22:78-86.
48. Danylkova N.O., Pomeranz H.D., Alcala S.R., et al. Histological and morphometric evaluation of transient retinal and optic nerve ischemia in rat. Brain Res 2006, 1096:20-29.
49. Davidson A.E., Cheong S.S., Hysi P.G., et al. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness. PLoS One 2014, 9:e104163.
50. Davis M.R., Summers K.M. Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases. Mol Genet Metab 2012, 107:635-647.
51. De Marco N., Buono M., Troise F., et al. Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. J Biol Chem 2006, 281:16147-16156.
52. de Voogd S., Ikram M.K., Wolfs R.C., et al. Is diabetes mellitus a risk factor for open-angle glaucoma? The Rotterdam Study. Ophthalmology 2006, 113:1827-1831.
53. Desir J., Sznajer Y., Depasse F., et al. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet 2010, 18:761-767.
54. Dickerman R.D., Smith G.H., Langham-Roof L., et al. Intra-ocular pressure changes during maximal isometric contraction: does this reflect intra-cranial pressure or retinal venous pressure?. Neurol Res 1999, 21:243-246.
55. Dietz J.A., Li Y., Chung L.M., et al. Rgcs1, a dominant QTL that affects retinal ganglion cell death after optic nerve crush in mice. BMC Neurosci 2008, 9:74.
56. Dietz J.A., Maes M.E., Huang S., et al. Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage. PLoS One 2014, 9:e93564.
57. Donegan R.K., Hill S.E., Turnage K.C., et al. The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein. J Biol Chem 2012, 287:43370-43377.
58. Dong C.J., Guo Y., Agey P., et al. Alpha2 adrenergic modulation of NMDA receptor function as a major mechanism of RGC protection in experimental glaucoma and retinal excitotoxicity. Invest Ophthalmol Vis Sci 2008, 49:4515-4522.
59. Doshi M., Marcus C., Bejjani B.A., Edward D.P. Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes. Exp Eye Res 2006, 82:24-32.
60. Downs J.C., Burgoyne C.F., Seigfreid W.P., et al. 24-hour IOP telemetry in the nonhuman primate: implant system performance and initial characterization of IOP at multiple timescales. Invest Ophthalmol Vis Sci 2011, 52:7365-7375.
61. Drago F., Valzelli S., Emmi I., et al. Latanoprost exerts neuroprotective activity in vitro and in vivo. Exp Eye Res 2001, 72:479-486.
62. Dreyer E.B., Zurakowski D., Schumer R.A., et al. Elevated glutamate levels in the vitreous body of humans and monkeys with glaucoma. Arch Ophthalmol 1996, 114:299-305.
63. The effectiveness of intraocular pressure reduction in the treatment of normal-tension glaucoma. Collaborative Normal-Tension Glaucoma Study Group. Am J Ophthalmol 1998, 126:498-505.
64. Ehlers N., Bramsen T., Sperling S. Applanation tonometry and central corneal thickness. Acta Ophthalmol (Copenh) 1975, 53:34-43.
65. Eisenlohr J.E. Glaucoma following the prolonged use of topical steroid medication to the eyelids. J Am Acad Dermatol 1983, 8:878-881.
66. Elhawy E., Kamthan G., Dong C.Q., et al. Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations. Hum Genomics 2012, 6:22.
67. Ellis J.D., Evans J.M., Ruta D.A., et al. Glaucoma incidence in an unselected cohort of diabetic patients: is diabetes mellitus a risk factor for glaucoma? DARTS/MEMO collaboration. Diabetes Audit and Research in Tayside Study. Medicines Monitoring Unit. Br J Ophthalmol 2000, 84:1218-1224.
68. Escribano J., Ortego J., Coca-Prados M. Isolation and characterization of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins. J Biochem 1995, 118:921-931.
69. Essner J.J., Branford W.W., Zhang J., et al. Mesendoderm and left-right brain, heart and gut development are differentially regulated by pitx2 isoforms. Development 2000, 127:1081-1093.
70. Fan B.J., Pasquale L., Grosskreutz C.L., et al. 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 2008, 9:5.
71. Fautsch M.P., Johnson D.H. Aqueous humor outflow: what do we know? Where will it lead us?. Invest Ophthalmol Vis Sci 2006, 47:4181-4187.
72. Fingert J.H., Alward W.L., Kwon Y.H., et al. No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol 2007, 125:434-436.
73. Fingert J.H., Alward W.L., Kwon Y.H., et al. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol 2007, 144:974-975.
74. Fingert J.H., Heon E., Liebmann J.M., et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999, 8:899-905.
75. Fingert J.H., Roos B.R., Solivan-Timpe F., et al. Analysis of ASB10 variants in open angle glaucoma. Hum Mol Genet 2012, 21:4543-4548.
76. Footz T., Dubois S., Sarfarazi M., et al. Co-variation of STI1 and WDR36/UTP21 alters cell proliferation in a glaucoma model. Mol Vis 2011, 17:1957-1969.
77. Footz T.K., Johnson J.L., Dubois S., et al. Glaucoma-associated WDR36 variants encode functional defects in a yeast model system. Hum Mol Genet 2009, 18:1276-1287.
78. Friedman D.S., Wolfs R.C., O'Colmain B.J., et al. Prevalence of open-angle glaucoma among adults in the United States. Arch Ophthalmol 2004, 122:532-538.
79. Friedman J.S., Walter M.A. Glaucoma genetics, present and future. Clin Genet 1999, 55:71-79.
80. Fu Q.L., Hu B., Wu W., et al. Blocking LINGO-1 function promotes retinal ganglion cell survival following ocular hypertension and optic nerve transection. Invest Ophthalmol Vis Sci 2008, 49:975-985.
81. Fuse N., Miyazawa A., Nakazawa T., et al. Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Mol Vis 2008, 14:1338-1343.
82. Gage P.J., Camper S.A. Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum Mol Genet 1997, 6:457-464.
83. Gao X., Gauderman W.J., Liu Y., et al. A genome-wide association study of central corneal thickness in Latinos. Invest Ophthalmol Vis Sci 2013, 54:2435-2443.
84. Garbe E., LeLorier J., Boivin J.F., et al. Risk of ocular hypertension or open-angle glaucoma in elderly patients on oral glucocorticoids. Lancet 1997, 350:979-982.
85. Gharahkhani P., Burdon K.P., Fogarty R., et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet 2014, 46:1120-1125.
86. Gonzalez A.V., Li G., Suissa S., et al. Risk of glaucoma in elderly patients treated with inhaled corticosteroids for chronic airflow obstruction. Pulm Pharmacol Ther 2010, 23:65-70.
87. Halliwell B. Oxidative stress and neurodegeneration: where are we now?. J Neurochem 2006, 97:1634-1658.
88. Hattula K., Peranen J. FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis. Curr Biol 2000, 10:1603-1606.
89. Hauser M.A., Allingham R.R., Linkroum K., et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006, 47:2542-2546.
90. Hayashi H., Gotoh N., Ueda Y., et al. Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. Am J Ophthalmol 2008, 145:582-585.
91. He Y., Leung K.W., Zhuo Y.H., et al. Pro370Leu mutant myocilin impairs mitochondrial functions in human trabecular meshwork cells. Mol Vis 2009, 15:815-825.
92. Heijl A., Leske M.C., Bengtsson B., et al. Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial. Arch Ophthalmol 2002, 120:1268-1279.
93. Hernandez M., Urcola J.H., Vecino E. Retinal ganglion cell neuroprotection in a rat model of glaucoma following brimonidine, latanoprost or combined treatments. Exp Eye Res 2008, 86:798-806.
94. Hernandez M.R. The optic nerve head in glaucoma: role of astrocytes in tissue remodeling. Prog Retin Eye Res 2000, 19:297-321.
95. Hewitt A.W., Dimasi D.P., Mackey D.A., et al. A glaucoma case-control study of the WDR36 Gene D658G sequence variant. Am J Ophthalmol 2006, 142:324-325.
96. Hewitt A.W., Mackey D.A., Craig J.E. Myocilin allele-specific glaucoma phenotype database. Hum Mutat 2008, 29:207-211.
97. Hewitt A.W., Sharma S., Burdon K.P., et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet 2008, 17:710-716.
98. Huang W., Jaroszewski J., Ortego J., et al. Expression of the TIGR gene in the iris, ciliary body, and trabecular meshwork of the human eye. Ophthalmic Genet 2000, 21:155-169.
99. Hysi P.G., Cheng C.Y., Springelkamp H., et al. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet 2014, 46:1126-1130.
100. Ito Y.A., Goping I.S., Berry F., et al. Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients. Cell Death Dis 2014, 5:e1069.
101. Ito Y.A., Walter M.A. Genomics and anterior segment dysgenesis: a review. Clin Experiment Ophthalmol 2014, 42:13-24.
102. Jansson M., Wadelius C., Rezaie T., et al. Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases. Ophthalmic Genet 2005, 26:85-89.
103. Ji D., Li G.Y., Osborne N.N. Nicotinamide attenuates retinal ischemia and light insults to neurones. Neurochem Int 2008, 52:786-798.
104. Jindal V. Glaucoma: an extension of various chronic neurodegenerative disorders. Mol Neurobiol 2013, 48:186-189.
105. Kaimbo D.K., Buntinx F., Missotten L. Risk factors for open-angle glaucoma: a case-control study. J Clin Epidemiol 2001, 54:166-171.
106. Kanamori A., Naka M., Fukuda M., et al. Latanoprost protects rat retinal ganglion cells from apoptosis in vitro and in vivo. Exp Eye Res 2009, 88:535-541.
107. Kang J.H., Wiggs J.L., Rosner B.A., et al. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with hypertension, alcohol intake, and cigarette smoking. Arch Ophthalmol 2011, 129:773-780.
108. Katz J., Sommer A. Risk factors for primary open angle glaucoma. Am J Prev Med 1988, 4:110-114.
109. Kaufmann E., Knochel W. Five years on the wings of fork head. Mech Dev 1996, 57:3-20.
110. Khan A.O., Aldahmesh M.A., Alkuraya F.S. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011, 17:2570-2579.
111. Khor C.C., Ramdas W.D., Vithana E.N., et al. Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. Hum Mol Genet 2011, 20:1864-1872.
112. Klein B.E., Klein R., Lee K.E. Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci 2004, 45:59-62.
113. Klein B.E., Klein R., Linton K.L. Intraocular pressure in an American community. The Beaver Dam Eye Study. Invest Ophthalmol Vis Sci 1992, 33:2224-2228.
114. Kroeber M., Ohlmann A., Russell P., et al. Transgenic studies on the role of optineurin in the mouse eye. Exp Eye Res 2006, 82:1075-1085.
115. Kubota R., Kudoh J., Mashima Y., et al. Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A). Biochem Biophys Res Comm 1998, 242:396-400.
116. Kubota R., Noda S., Wang Y., et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 1997, 41:360-369.
117. Kudo H., Nakazawa T., Shimura M., et al. Neuroprotective effect of latanoprost on rat retinal ganglion cells. Graefes Arch Clin Exp Ophthalmol 2006, 244:1003-1009.
118. Kulak S.C., Kozlowski K., Semina E.V., et al. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet 1998, 7:1113-1117.
119. Lagreze W.A., Knorle R., Bach M., et al. Memantine is neuroprotective in a rat model of pressure-induced retinal ischemia. Invest Ophthalmol Vis Sci 1998, 39:1063-1066.
120. Lambert W., Agarwal R., Howe W., et al. Neurotrophin and neurotrophin receptor expression by cells of the human lamina cribrosa. Invest Ophthalmol Vis Sci 2001, 42:2315-2323.
121. Lehmann O.J., Ebenezer N.D., Ekong R., et al. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci 2002, 43:1843-1849.
122. Lehmann O.J., Ebenezer N.D., Jordan T., et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet 2000, 67:1129-1135.
123. Leske M.C., Wu S.Y., Hennis A., et al. Risk factors for incident open-angle glaucoma: the Barbados Eye Studies. Ophthalmology 2008, 115:85-93.
124. Levene R.Z. Low tension glaucoma: a critical review and new material. Surv Ophthalmol 1980, 24:621-664.
125. Levene R.Z., Workman P.L., Broder S.W., et al. Heritability of ocular pressure in normal and suspect ranges. Arch Ophthalmol 1970, 84:730-734.
126. Li S., Mallory M., Alford M., et al. Glutamate transporter alterations in Alzheimer disease are possibly associated with abnormal APP expression. J Neuropathol Exp Neurol 1997, 56:901-911.
127. Li Y., Kang J., Horwitz M.S. Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol Cell Biol 1998, 18:1601-1610.
128. Liu Y., Schmidt S., Qin X., et al. Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. Invest Ophthalmol Vis Sci 2008, 49:3465-3468.
129. Liu Y., Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004, 13:1193-1204.
130. Lively G.D., Koehn D., Hedberg-Buenz A., et al. Quantitative trait loci associated with murine central corneal thickness. Physiol Genomics 2010, 42:281-286.
131. Lu Y., Dimasi D.P., Hysi P.G., et al. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 2010, 6:e1000947.
132. Lu Y., Vitart V., Burdon K.P., et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet 2013, 45:155-163.
133. Macgregor S., Hewitt A.W., Hysi P.G., et al. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet 2010, 19:2716-2724.
134. Madden A.C., Simmons D., McCarty C.A., et al. Eye health in rural Australia. Clin Experiment Ophthalmol 2002, 30:316-321.
135. Marcus M.W., Muskens R.P., Ramdas W.D., et al. Corticosteroids and open-angle glaucoma in the elderly: a population-based cohort study. Drugs Aging 2012, 29:963-970.
136. Martin K.R., Quigley H.A., Zack D.J., et al. Gene therapy with brain-derived neurotrophic factor as a protection: retinal ganglion cells in a rat glaucoma model. Invest Ophthalmol Vis Sci 2003, 44:4357-4365.
137. Masliah E., Alford M., DeTeresa R., et al. Deficient glutamate transport is associated with neurodegeneration in Alzheimer's disease. Ann Neurol 1996, 40:759-766.
138. McKay B.S., Congrove N.R., Johnson A.A., et al. A role for myocilin in receptor-mediated endocytosis. PLoS One 2013, 8:e82301.
139. McKinnon S.J. The cell and molecular biology of glaucoma: common neurodegenerative pathways and relevance to glaucoma. Invest Ophthalmol Vis Sci 2012, 53:2485-2487.
140. McKinnon S.J., Lehman D.M., Kerrigan-Baumrind L.A., et al. Caspase activation and amyloid precursor protein cleavage in rat ocular hypertension. Invest Ophthalmol Vis Sci 2002, 43:1077-1087.
141. Mears A.J., Jordan T., Mirzayans F., et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 1998, 63:1316-1328.
142. Mehra K.S., Roy P.N., Khare B.B. Tobacco smoking and glaucoma. Ann Ophthalmol 1976, 8:462-464.
143. Melki R., Belmouden A., Akhayat O., et al. The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. J Med Genet 2003, 40:842-844.
144. Milla E., Hernan I., Gamundi M.J., et al. Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma. Mol Vis 2007, 13:639-648.
145. Miller F.D., Kaplan D.R. Neurotrophin signalling pathways regulating neuronal apoptosis. Cell Mol Life Sci 2001, 58:1045-1053.
146. Mirzayans F., Gould D.B., Heon E., et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet 2000, 8:71-74.
147. Mitchell P., Smith W., Attebo K., et al. Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study. Ophthalmology 1996, 103:1661-1669.
148. Miyazawa A., Fuse N., Mengkegale M., et al. Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese. Mol Vis 2007, 13:1912-1919.
149. Monemi S.S.G., DaSilva A., Popinchalk S., et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005, 15:725-733.
150. Morello R., Zhou G., Dreyer S.D., et al. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 2001, 27:205-208.
151. Moren A., Olofsson A., Stenman G., et al. Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein. J Biol Chem 1994, 269:32469-32478.
152. Morgan J.E. Optic nerve head structure in glaucoma: astrocytes as mediators of axonal damage. Eye (Lond) 2000, 14(Pt 3B):437-444.
153. Mori K., Imai K., Matsuda A., et al. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. Mol Vis 2008, 14:1037-1040.
154. Morin P.J., Abraham C.R., Amaratunga A., et al. Amyloid precursor protein is synthesized by retinal ganglion cells, rapidly transported to the optic nerve plasma membrane and nerve terminals, and metabolized. J Neurochem 1993, 61:464-473.
155. Morissette J., Clepet C., Moisan S., et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet 1998, 19:319-321.
156. Motsko S.P., Jones J.K. Is there an association between hypothyroidism and open-angle glaucoma in an elderly population? An epidemiologic study. Ophthalmology 2008, 115:1581-1584.
157. Munemasa Y., Ahn J.H., Kwong J.M., et al. Redox proteins thioredoxin 1 and thioredoxin 2 support retinal ganglion cell survival in experimental glaucoma. Gene Ther 2009, 16:17-25.
158. Musch D.C., Gillespie B.W., Lichter P.R., et al. Visual field progression in the Collaborative Initial Glaucoma Treatment Study the impact of treatment and other baseline factors. Ophthalmology 2009, 116:200-207.
159. Nagabhushana A., Chalasani M.L., Jain N., et al. Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. BMC Cell Biol 2010, 11:4.
160. Nakanishi Y., Nakamura M., Mukuno H., et al. Latanoprost rescues retinal neuro-glial cells from apoptosis by inhibiting caspase-3, which is mediated by p44/p42 mitogen-activated protein kinase. Exp Eye Res 2006, 83:1108-1117.
161. Narooie-Nejad M., Paylakhi S.H., Shojaee S., et al. Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. Hum Mol Genet 2009, 18:3969-3977.
162. Newman-Casey P.A., Talwar N., Nan B., et al. The relationship between components of metabolic syndrome and open-angle glaucoma. Ophthalmology 2011, 118:1318-1326.
163. Nickells R.W., Howell G.R., Soto I., et al. Under pressure: cellular and molecular responses during glaucoma, a common neurodegeneration with axonopathy. Annu Rev Neurosci 2012, 35:153-179.
164. Nishimura D.Y., Searby C.C., Alward W.L., et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet 2001, 68:364-372.
165. Nishimura D.Y., Swiderski R.E., Alwards L.M., et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998, 19:140-147.
166. Nomura H., Ando F., Niino N., et al. The relationship between age and intraocular pressure in a Japanese population: the influence of central corneal thickness. Curr Eye Res 2002, 24:81-85.
167. Nomura H., Shimokata H., Ando F., et al. Age-related changes in intraocular pressure in a large Japanese population: a cross-sectional and longitudinal study. Ophthalmology 1999, 106:2016-2022.
168. Nucci C., Tartaglione R., Cerulli A., et al. Retinal damage caused by high intraocular pressure-induced transient ischemia is prevented by coenzyme Q10 in rat. Int Rev Neurobiol 2007, 82:397-406.
169. Osborne N.N. Recent clinical findings with memantine should not mean that the idea of neuroprotection in glaucoma is abandoned. Acta Ophthalmol 2009, 87:450-454.
170. Osborne N.N., Ji D., Abdul Majid A.S., et al. ACS67, a hydrogen sulfide-releasing derivative of latanoprost acid, attenuates retinal ischemia and oxidative stress to RGC-5 cells in culture. Invest Ophthalmol Vis Sci 2010, 51:284-294.
171. Ozaki M., Lee K.Y., Vithana E.N., et al. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest Ophthalmol Vis Sci 2008, 49:3976-3980.
172. Ozel A.B., Moroi S.E., Reed D.M., et al. Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet 2014, 133:41-57.
173. Pasquale L.R., Kang J.H., Manson J.E., et al. Prospective study of type 2 diabetes mellitus and risk of primary open-angle glaucoma in women. Ophthalmology 2006, 113:1081-1086.
174. Pasutto F., Keller K.E., Weisschuh N., et al. Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet 2012, 21:1336-1349.
175. Pasutto F., Mardin C.Y., Michels-Rautenstrauss K., et al. Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci 2008, 49:270-274.
176. Pasutto F., Matsumoto T., Mardin C.Y., et al. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 2009, 85:447-456.
177. Patel H.Y., Richards A.J., De Karolyi B., et al. Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes. Clin Experiment Ophthalmol 2012, 40:e208-217.
178. Pease M.E., McKinnon S.J., Quigley H.A., et al. Obstructed axonal transport of BDNF and its receptor TrkB in experimental glaucoma. Invest Ophthalmol Vis Sci 2000, 41:764-774.
179. Perveen R., Lloyd I.C., Clayton-Smith J., et al. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci 2000, 41:2456-2460.
180. Phelps C.D., Corbett J.J. Migraine and low-tension glaucoma. A case-control study. Invest Ophthalmol Vis Sci 1985, 26:1105-1108.
181. Pressman C.L., Chen H., Johnson R.L. LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis 2000, 26:15-25.
182. Quigley H.A., Broman A.T. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006, 90:262-267.
183. Ramdas W.D., van Koolwijk L.M., Ikram M.K., et al. A genome-wide association study of optic disc parameters. PLoS Genet 2010, 6:e1000978.
184. Ramprasad V.L., George R., Soumittra N., et al. Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India. Mol Vis 2008, 14:318-322.
185. Rao K.N., Ritch R., Dorairaj S.K., et al. Exfoliation syndrome and exfoliation glaucoma-associated LOXL1 variations are not involved in pigment dispersion syndrome and pigmentary glaucoma. Mol Vis 2008, 14:1254-1262.
186. Raymond V. Molecular genetics of glaucomas: mapping of the first five "GLC" loci. Am J Hum Genet 1997, 60:272-277.
187. Reis L.M., Tyler R.C., Semina E.V. Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. Mol Vis 2014, 20:836-842.
188. Resch Z.T., Fautsch M.P. Glaucoma-associated myocilin: a better understanding but much more to learn. Exp Eye Res 2009, 88:704-712.
189. Rezaie T., Child A., Hitchings R., et al. Adult-onset primary open angle glaucoma caused by mutations in OPTN. Science 2002, 295:1077-1079.
190. Riddle R.D., Ensini M., Nelson C., et al. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb. Cell 1995, 83:631-640.
191. Robertson I., Jensen S., Handford P. TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs. Biochem J 2011, 433:263-276.
192. Rochtchina E., Mitchell P., Wang J.J. Relationship between age and intraocular pressure: the Blue Mountains Eye Study. Clin Experiment Ophthalmol 2002, 30:173-175.
193. Romero P., Sanhueza F., Lopez P., et al. c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. Mol Vis 2011, 17:1929-1939.
194. Royle S.J., Lagnado L. Endocytosis at the synaptic terminal. J Physiol 2003, 553:345-355.
195. Rudnicka A.R., Mt-Isa S., Owen C.G., et al. Variations in primary open-angle glaucoma prevalence by age, gender, and race: a Bayesian meta-analysis. Invest Ophthalmol Vis Sci 2006, 47:4254-4261.
196. Sahlender D.A., Roberts R.C., Arden S.D., et al. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J Cell Biol 2005, 169:285-295.
197. Sarfarazi M., Child A., Stoilova D., et al. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 1998, 62:641-652.
198. Sasai N., Mizuseki K., Sasai Y. Requirement of FoxD3-class signaling for neural crest determination in Xenopus. Development 2001, 128:2525-2536.
199. Saylor M., McLoon L.K., Harrison A.R., et al. Experimental and clinical evidence for brimonidine as an optic nerve and retinal neuroprotective agent: an evidence-based review. Arch Ophthalmol 2009, 127:402-406.
200. Scheetz T.E., Fingert J.H., Wang K., et al. A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci. PLoS One 2013, 8:e58657.
201. Schlotzer-Schrehardt U. Molecular pathology of pseudoexfoliation syndrome/glaucoma-new insights from LOXL1 gene associations. Exp Eye Res 2009, 88:776-785.
202. Schmeichel K.L., Beckerle M.C. Molecular dissection of a LIM domain. Mol Biol Cell 1997, 8:219-230.
203. Schwartz J.T., Reuling F.H., Feinleib M. Size of the physiologic cup of the optic nerve head. hereditary and environmental factors. Arch Ophthalmol 1975, 93:776-778.
204. Schweickert A., Campione M., Steinbeisser H., et al. Pitx2 isoforms: involvement of Pitx2c but not Pitx2a or Pitx2b in vertebrate left-right asymmetry. Mech Dev 2000, 90:41-51.
205. Semina E.V., Reiter R., Leysens N.J., et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996, 14:392-399.
206. Shah S., Chatterjee A., Mathai M., et al. Relationship between corneal thickness and measured intraocular pressure in a general ophthalmology clinic. Ophthalmology 1999, 106:2154-2160.
207. Sheffield V.C., Stone E.M., Alward W.L., et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993, 4:47-50.
208. Shiose Y., Kitazawa Y., Tsukahara S., et al. Epidemiology of glaucoma in Japan-a nationwide glaucoma survey. Jpn J Ophthalmol 1991, 35:133-155.
209. Siliprandi R., Canella R., Carmignoto G., et al. N-methyl-D-aspartate-induced neurotoxicity in the adult rat retina. Vis Neurosci 1992, 8:567-573.
210. Sirohi K., Chalasani M.L., Sudhakar C., et al. M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells. Autophagy 2013, 9:510-527.
211. Siu A.W., Ortiz G.G., Benitez-King G., et al. Effects of melatonin on the nitric oxide treated retina. Br J Ophthalmol 2004, 88:1078-1081.
212. Smidt M.P., Cox J.J., van Schaick H.S., et al. Analysis of three Ptx2 splice variants on transcriptional activity and differential expression pattern in the brain. J Neurochem 2000, 75:1818-1825.
213. Sripriya S., Nirmaladevi J., George R., et al. OPTN gene: profile of patients with glaucoma from India. Mol Vis 2006, 12:816-820.
214. Stamer W.D., Perkumas K.M., Hoffman E.A., et al. Coiled-coil targeting of myocilin to intracellular membranes. Exp Eye Res 2006, 83:1386-1395.
215. Stoilov I., Akarsu A.N., Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997, 6:641-647.
216. Stone E.M., Fingert J.H., Alward W.L.M., et al. Identification of a gene that causes primary open angle glaucoma [see comments]. Science 1997, 275:668-670.
217. Strungaru M.H., Dinu I., Walter M.A. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci 2007, 48:228-237.
218. Strungaru M.H., Footz T., Liu Y., et al. PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3. Invest Ophthalmol Vis Sci 2011, 52:7625-7633.
219. Sundaresan P., Simpson D.A., Sambare C., et al. Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants. Genet Med 2015, 17:279-284.
220. Tamm E.R., Grehn F., Pfeiffer N. Neuroprotection in glaucoma. Cell Tissue Res 2013, 353:201-203.
221. Tamura H., Kawakami H., Kanamoto T., et al. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease. J Neurol Sci 2006, 246:79-83.
222. Tang Y., Scheef E.A., Gurel Z., et al. CYP1B1 and endothelial nitric oxide synthase combine to sustain proangiogenic functions of endothelial cells under hyperoxic stress. Am J Physiol Cell Physiol 2010, 298:C665-C678.
223. Tang Y., Scheef E.A., Wang S., et al. CYP1B1 expression promotes the proangiogenic phenotype of endothelium through decreased intracellular oxidative stress and thrombospondin-2 expression. Blood 2009, 113:744-754.
224. Teng K.K., Hempstead B.L. Neurotrophins and their receptors: signaling trios in complex biological systems. Cell Mol Life Sci 2004, 61:35-48.
225. Thorleifsson G., Magnusson K.P., Sulem P., et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007, 317:1397-1400.
226. Thorleifsson G., Walters G.B., Hewitt A.W., et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 2010, 42:906-909.
227. Toda Y., Tang S., Kashiwagi K., et al. Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma. Am J Med Genet A 2004, 125A:1-4.
228. Toh T., Liew S.H., MacKinnon J.R., et al. Central corneal thickness is highly heritable: the twin eye studies. Invest Ophthalmol Vis Sci 2005, 46:3718-3722.
229. Uhm K.B., Shin D.H. Glaucoma risk factors in primary open-angle glaucoma patients compared to ocular hypertensives and control subjects. Korean J Ophthalmol 1992, 6:91-99.
230. Ullrich O., Reinsch S., Urbe S., et al. Rab11 regulates recycling through the pericentriolar recycling endosome. J Cell Biol 1996, 135:913-924.
231. Vaibhava V., Nagabhushana A., Chalasani M.L., et al. Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. J Cell Sci 2012, 125:5026-5039.
232. van Koolwijk L.M., Despriet D.D., van Duijn C.M., et al. Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. Invest Ophthalmol Vis Sci 2007, 48:3669-3676.
233. van Koolwijk L.M., Ramdas W.D., Ikram M.K., et al. Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet 2012, 8:e1002611.
234. Vasiliou V., Gonzalez F.J. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol 2008, 48:333-358.
235. Vidal L., Diaz F., Villena A., et al. Reaction of Muller cells in an experimental rat model of increased intraocular pressure following timolol, latanoprost and brimonidine. Brain Res Bull 2010, 82:18-24.
236. Vie R. Glaucoma and amaurosis associated with long-term application of topical corticosteroids to the eyelids. Acta Derm Venereol 1980, 60:541-542.
237. Vincent A.L., Billingsley G., Buys Y., et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002, 70:448-460.
238. Vitart V., Bencic G., Hayward C., et al. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet 2010, 19:4304-4311.
239. Vithana E.N., Aung T., Khor C.C., et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet 2011, 20:649-658.
240. Vogel A., Rodriguez C., Warnken W., et al. Dorsal cell fate specified by chick Lmx1 during vertebrate limb development. Nature 1995, 378:716-720.
241. Vollrath D., Jaramillo-Babb V.L., Clough M.V., et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998, 7:1091-1098.
242. Wang D., Huang Y., Huang C., et al. Association analysis of cigarette smoking with onset of primary open-angle glaucoma and glaucoma-related biometric parameters. BMC Ophthalmol 2012, 12:59.
243. Weih L.M., Mukesh B.N., McCarty C.A., et al. Association of demographic, familial, medical, and ocular factors with intraocular pressure. Arch Ophthalmol 2001, 119:875-880.
244. Weisschuh N., Wolf C., Wissinger B., et al. Variations in the WDR36 gene in German patients with normal tension glaucoma. Mol Vis 2007, 13:724-729.
245. Welinder L.G., Riis A.H., Knudsen L.L., et al. Diabetes, glycemic control and risk of medical glaucoma treatment: a population-based case-control study. Clin Epidemiol 2009, 1:125-131.
246. Whitacre M.M., Stein R.A., Hassanein K. The effect of corneal thickness on applanation tonometry. Am J Ophthalmol 1993, 115:592-596.
247. Wiggs J.L. The cell and molecular biology of complex forms of glaucoma: updates on genetic, environmental, and epigenetic risk factors. Invest Ophthalmol Vis Sci 2012, 53:2467-2469.
248. Wiggs J.L., Kang J.H., Yaspan B.L., et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet 2011, 20:4707-4713.
249. Wiggs J.L., Yaspan B.L., Hauser M.A., et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet 2012, 8:e1002654.
250. Wilson M.R., Hertzmark E., Walker A.M., et al. A case-control study of risk factors in open angle glaucoma. Arch Ophthalmol 1987, 105:1066-1071.
251. Wirtz M.K., Samples J.R., Rust K., et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol 1999, 117:237-241.
252. Wise L.A., Rosenberg L., Radin R.G., et al. A prospective study of diabetes, lifestyle factors, and glaucoma among African-American women. Ann Epidemiol 2011, 21:430-439.
253. Wolf C., Gramer E., Muller-Myhsok B., et al. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC Med Genet 2009, 10:91.
254. Wordinger R.J., Sharma T., Clark A.F. The role of TGF-beta2 and bone morphogenetic proteins in the trabecular meshwork and glaucoma. J Ocul Pharmacol Ther 2014, 30:154-162.
255. Worley A., Grimmer-Somers K. Risk factors for glaucoma: what do they really mean?. Aust J Prim Health 2011, 17:233-239.
256. Wostyn P., Audenaert K., De Deyn P.P. Alzheimer's disease: cerebral glaucoma?. Med Hypotheses 2010, 74:973-977.
257. Yoshida M., Take S., Ishikawa M., et al. Association of smoking with intraocular pressure in middle-aged and older Japanese residents. Environ Health Prev Med 2014, 19:100-107.
258. Zhao Y., Wang S., Sorenson C.M., et al. Cyp1b1 mediates periostin regulation of trabecular meshwork development by suppression of oxidative stress. Mol Cell Biol 2013, 33:4225-4240.
259. Zhou M., Wang W., Huang W., et al. Diabetes mellitus as a risk factor for open-angle glaucoma: a systematic review and meta-analysis. PLoS One 2014, 9:e102972.
260. Zugerman C., Saunders D., Levit F. Glaucoma from topically applied steroids. Arch Dermatol 1976, 112:1326.
261. Crawford AJ, Downs C. Short-term IOP spikes constitute over 11% of the IOP energy the eye must absorb during waking hours: Paper presented at Association for Research in Vision and Ophthalmology (ARVO); 2014. Abstract Number: 1664.