Глаукома нормального давления: эпидемиология, патогенез, диагностика и лечение. Обзор литературы. Часть 1

Глаукома — одна из главных причин необратимой слепоты в мире. Распространенность глаукомы нормального давления, особенно среди лиц азиатского происхождения, достаточно высока, однако патогенез остается не до конца изученным. Основной причиной считается генетическая предрасположенность к заболеванию, однако имеют значение и другие факторы, такие как истончение решетчатой мембраны склеры и нарушение трансмембранного градиента давления. К клиническим особенностям можно отнести центральные дефекты поля зрения и геморрагии на диске зрительного нерва, которые ассоциированы с высоким риском прогрессирования данной формы заболевания.

1. Allison K, Patel D, Alabi O. Epidemiology of Glaucoma: The Past, Present, and Predictions for the Future. Cureus. 2020 Nov 24;12(11):e11686. doi: 10.7759/cureus.11686.

2. Lee JWY, Chan PP, Zhang X, Chen LJ, Jonas JB. Latest Developments in Normal-Pressure Glaucoma: Diagnosis, Epidemiology, Genetics, Etiology, Causes and Mechanisms to Management. Asia Pac J Ophthalmol (Phila). 2019 NovDec;8(6):457–468. doi: 10.1097/01.APO.0000605096.48529.9c.

3. Cho HK, Kee C. Population-based glaucoma prevalence studies in Asians. Surv Ophthalmol. 2014 Jul-Aug;59(4):434–447. doi: 10.1016/j.survophthal.2013.09.003.

4. Weisschuh N, Wolf C, Wissinger B, Gramer E. Variations in the WDR36 gene in German patients with normal tension glaucoma. Mol Vis. 2007 May 16;13:724–729. PMID: 17563723; PMCID: PMC2765470.

5. Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis. 2005 Apr 18;11:284–287.

6. Wiggs JL, Pasquale LR. Genetics of glaucoma. Hum Mol Genet. 2017 Aug 1;26(R1):R21–R27. doi: 10.1093/hmg/ddx184.

7. Sudhakar C, Nagabhushana A, Jain N, Swarup G. NF-kappaB mediates tumor necrosis factor alpha-induced expression of optineurin, a negative regulator of NFkappaB. PLoS One. 2009;4(4):e5114. doi: 10.1371/journal.pone.0005114.

8. Richter B, Sliter DA, Herhaus L, Stolz A, Wang C, Beli P, Zaffagnini G, Wild P, Martens S, Wagner SA, Youle RJ, Dikic I. Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria. Proc Natl Acad Sci USA. 2016 Apr 12;113(15):4039–4044. doi: 10.1073/ pnas.1523926113. Epub 2016 Mar 30.

9. Mi XS, Yuan TF, So KF. The current research status of normal tension glaucoma. Clin Interv Aging. 2014 Sep 16;9:1563–1571. doi: 10.2147/CIA.S67263.

10. Fraenkl SA, Golubnitschaja O, Yeghiazaryan K, Orgül S, Flammer J. Differences in gene expression in lymphocytes of patients with high-tension, PEX, and normal-tension glaucoma and in healthy subjects. Eur J Ophthalmol. 2013 NovDec;23(6):841–849. doi: 10.5301/ejo.5000306.

11. Golubnitschaja O, Yeghiazaryan K, Liu R, Mönkemann H, Leppert D, Schild H, Haefliger IO, Flammer J. Increased expression of matrix metalloproteinases in mononuclear blood cells of normal-tension glaucoma patients. J Glaucoma. 2004 Feb;13(1):66–72. doi: 10.1097/00061198-200402000-00013. PMID: 14704547.

12. Liu Y, Allingham RR. Major review: Molecular genetics of primary open-angle glaucoma. Exp Eye Res. 2017 Jul;160:62–84. doi: 10.1016/j.exer.2017.05.002.

13. Murakami K, Meguro A, Ota M, Shiota T, Nomura N, Kashiwagi K, Mabuchi F, Iijima H, Kawase K, Yamamoto T, Nakamura M, Negi A, Sagara T, Nishida T, Inatani M, Tanihara H, Aihara M, Araie M, Fukuchi T, Abe H, Higashide T, Sugiyama K, Kanamoto T, Kiuchi Y, Iwase A, Ohno S, Inoko H, Mizuki N. Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma. Mol Vis. 2010 Mar 17;16:462–466.

14. Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Reinthal E, Wissinger B, Weisschuh N. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC Med Genet. 2009 Sep 15;10:91. doi: 10.1186/14712350-10-91.

15. Writing Committee for the Normal Tension Glaucoma Genetic Study Group of Japan Glaucoma Society; Meguro A, Inoko H, Ota M, Mizuki N, Bahram S. Genomewide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology. 2010 Jul;117(7):1331–1338.e5. doi: 10.1016/j.ophtha.2009.12.001. Epub 2010 Apr 3. Erratum in: Ophthalmology. 2010 Nov;117(11):2103. Writing Committee fot the Normal Tension Glaucoma Genetic Study of Japan Glaucoma Society [corrected to Writing Committee for the Normal Tension Glaucoma Genetic Study of Japan Glaucoma Society].

16. Pan Y, Suga A, Kimura I, Kimura C, Minegishi Y, Nakayama M, Yoshitake K, Iejima D, Minematsu N, Yamamoto M, Mabuchi F, Takamoto M, Shiga Y, Araie M, Kashiwagi K, Aihara M, Nakazawa T, Iwata T. METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma. J Clin Invest. 2022 Nov 1;132(21):e153589. doi: 10.1172/JCI153589.

17. Liu WW, Sun Y. Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration. J Clin Invest. 2022 Nov 1;132(21):e163670. doi: 10.1172/ JCI163670.

18. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science. 1997 Jan 31;275(5300):668–670. doi: 10.1126/science.275.5300.668.

19. Kumar S, Malik MA, Goswami S, Sihota R, Kaur J. Candidate genes involved in the susceptibility of primary open angle glaucoma. Gene. 2016 Feb 15;577(2):119–131. doi: 10.1016/j.gene.2015.11.032.

20. Janssen SF, Gorgels TG, van der Spek PJ, Jansonius NM, Bergen AA. In silico analysis of the molecular machinery underlying aqueous humor production: potential implications for glaucoma. J Clin Bioinforma. 2013 Oct 28;3(1):21. doi: 10.1186/2043-9113-3-21.

21. Lascaratos G, Garway-Heath DF, Willoughby CE, Chau KY, Schapira AH. Mitochondrial dysfunction in glaucoma: understanding genetic influences. Mitochondrion. 2012 Mar;12(2):202–212. doi: 10.1016/j.mito.2011.11.004.

22. Sahay P, Rao A, Padhy D, Sarangi S, Das G, Reddy MM, Modak R. Functional Activity of Matrix Metalloproteinases 2 and 9 in Tears of Patients With Glaucoma. Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO106–BIO113. doi: 10.1167/iovs.1721723.

23. Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma. Ophthalmology. 2012 Sep;119(9):1819–1825. doi: 10.1016/j.ophtha.2012.02.044.

24. Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet. 2011 Apr;19(4):445–451. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12.

25. Nowak A, Majsterek I, Przybyłowska-Sygut K, Pytel D, Szymanek K, Szaflik J, Szaflik JP. Analysis of the expression and polymorphism of APOE, HSP, BDNF, and GRIN2B genes associated with the neurodegeneration process in the pathogenesis of primary open angle glaucoma. Biomed Res Int. 2015;2015:258281. doi: 10.1155/2015/258281.

26. Woo SJ, Kim JY, Kim DM, Park SS, Ko HS, Yoo T. Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra-hydrofolate reductase gene polymorphisms and normal-tension glaucoma. Eye (Lond). 2009 Jan;23(1):17–24. doi: 10.1038/sj.eye.6702920.

27. Trivli A, Koliarakis I, Terzidou C, Goulielmos GN, Siganos CS, Spandidos DA, Dalianis G, Detorakis ET. Normal-tension glaucoma: Pathogenesis and genetics. Exp Ther Med. 2019 Jan;17(1):563–574. doi: 10.3892/etm.2018.7011.

28. Tan NY, Koh V, Girard MJ, Cheng CY. Imaging of the lamina cribrosa and its role in glaucoma: a review. Clin Exp Ophthalmol. 2018 Mar;46(2):177–188. doi: 10.1111/ ceo.13126.

29. Downs JC, Girkin CA. Lamina cribrosa in glaucoma. Curr Opin Ophthalmol. 2017 Mar;28(2):113–119. doi: 10.1097/ICU.0000000000000354.

30. Mirra S, Marfany G, Garcia-Fernàndez J. Under pressure: Cerebrospinal fluid contribution to the physiological homeostasis of the eye. Semin Cell Dev Biol. 2020 Jun;102:40–47. doi: 10.1016/j.semcdb.2019.11.003.

31. Strickland RG, Garner MA, Gross AK, Girkin CA. Remodeling of the Lamina Cribrosa: Mechanisms and Potential Therapeutic Approaches for Glaucoma. Int J Mol Sci. 2022 Jul 22;23(15):8068. doi: 10.3390/ijms23158068.

32. Li L, Song F. Biomechanical research into lamina cribrosa in glaucoma. Natl Sci Rev. 2020 Aug;7(8):1277–1279. doi: 10.1093/nsr/nwaa063. Epub 2020 Apr 11.

33. Quigley HA, Addicks EM, Green WR, Maumenee AE. Optic nerve damage in human glaucoma. II. The site of injury and susceptibility to damage. Arch Ophthalmol. 1981 Apr;99(4):635–649. doi: 10.1001/archopht.1981.03930010635009.

34. Арутюнян Л.Л., Анисимова С.Ю., Морозова Ю.С., Анисимов С.И. Биометрические и морфометрические параметры решетчатой пластинки у пациентов с разными стадиями первичной открытоугольной глаукомы. Национальный журнал глаукома 2021;20(3):11–19.

35. Курышева Н.И, Ким В.Ю. Исследование решетчатой мембраны склеры при глаукоме. Точка зрения. Восток — Запад 2022;2:60–69.

36. Luo H, Yang H, Gardiner SK, Hardin C, Sharpe GP, Caprioli J, Demirel S, Girkin CA, Liebmann JM, Mardin CY, Quigley HA, Scheuerle AF, Fortune B, Chauhan BC, Burgoyne CF. Factors Influencing Central Lamina Cribrosa Depth: A Multicenter Study. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2357–2370. doi: 10.1167/iovs.17-23456.

37. Kim JA, Kim TW, Lee EJ, Kim JM, Girard MJA, Mari JM. Intereye Comparison of Lamina Cribrosa Curvature in Normal Tension Glaucoma Patients With Unilateral Damage. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2423–2430. doi: 10.1167/iovs.19-26828. PMID: 31158274.

38. Kim GN, Kim JA, Kim MJ, Lee EJ, Hwang JM, Kim TW. Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):9. doi: 10.1167/iovs.61.5.9. PMID: 32392317; PMCID: PMC7405716.

39. Kim JA, Lee EJ, Kim TW, Kim H, Girard MJA, Mari JM, Yang HK, Hwang JM. Differentiation of Nonarteritic Anterior Ischemic Optic Neuropathy from Normal Tension Glaucoma by Comparison of the Lamina Cribrosa. Invest Ophthalmol Vis Sci. 2020 Jul 1;61(8):21. doi: 10.1167/iovs.61.8.21.

40. Lee SH, Kim TW, Lee EJ, Girard MJ, Mari JM. Diagnostic Power of Lamina Cribrosa Depth and Curvature in Glaucoma. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):755–762. doi: 10.1167/iovs.16-20802.

41. Kim JA, Kim TW, Lee EJ, Girard MJA, Mari JM. Comparison of Lamina Cribrosa Morphology in Eyes with Ocular Hypertension and Normal-Tension Glaucoma. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):4. doi: 10.1167/iovs.61.4.4.

42. Lee EJ, Kim TW, Kim JA, Kim GN, Kim JM, Girard MJA, Mari JM, Kim H. Elucidation of the Strongest Factors Influencing Rapid Retinal Nerve Fiber Layer Thinning in Glaucoma. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3343–3351. doi: 10.1167/iovs.18-26519.

43. Lee SH, Kim TW, Lee EJ, Girard MJA, Mari JM. Lamina Cribrosa Curvature in Healthy Korean Eyes. Sci Rep. 2019 Feb 11;9(1):1756. doi: 10.1038/s41598-01838331-7.

44. Lee P, Chandel NS, Simon MC. Cellular adaptation to hypoxia through hypoxia inducible factors and beyond. Nat Rev Mol Cell Biol. 2020 May;21(5):268–283. doi: 10.1038/s41580-020-0227-y.

45. Lee SH, Kim TW, Lee EJ, Kil H. Association between Optic Nerve Sheath Diameter and Lamina Cribrosa Morphology in Normal-Tension Glaucoma. J Clin Med. 2023 Jan 2;12(1):360. doi: 10.3390/jcm12010360.

46. Kim JA, Lee SH, Son DH, Kim TW, Lee EJ, Girard MJA, Mari JM. Morphologic Changes in the Lamina Cribrosa Upon Intraocular Pressure Lowering in Patients With Normal Tension Glaucoma. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):23. doi: 10.1167/iovs.63.2.23.

47. Stoskuviene A, Siaudvytyte L, Januleviciene I, Vaitkus A, Simiene E, Bakstyte V, Ragauskas A, Antman G, Siesky B, Harris A. The Relationship between Intracranial Pressure and Visual Field Zones in Normal-Tension Glaucoma Patients. Diagnostics (Basel). 2023 Jan 4;13(2):174. doi: 10.3390/diagnostics13020174.

48. Thonginnetra O, Greenstein VC, Chu D, Liebmann JM, Ritch R, Hood DC. Normal versus high tension glaucoma: a comparison of functional and structural defects. J Glaucoma. 2010 Mar;19(3):151–157. doi: 10.1097/IJG.0b013e318193c45c.

49. De Moraes CG, Hood DC, Thenappan A, Girkin CA, Medeiros FA, Weinreb RN, Zangwill LM, Liebmann JM. 24-2 Visual Fields Miss Central Defects Shown on 10-2 Tests in Glaucoma Suspects, Ocular Hypertensives, and Early Glaucoma. Ophthalmology. 2017 Oct;124(10):1449–1456. doi: 10.1016/j.ophtha.2017.04.021. Epub 2017 May 24.

50. Traynis I, De Moraes CG, Raza AS, Liebmann JM, Ritch R, Hood DC. Prevalence and nature of early glaucomatous defects in the central 10° of the visual field. JAMA Ophthalmol. 2014 Mar;132(3):291–297. doi: 10.1001/jamaophthalmol.2013.7656.

51. Park HY, Park SH, Park CK. Central visual field progression in normal-tension glaucoma patients with autonomic dysfunction. Invest Ophthalmol Vis Sci. 2014 Apr 21;55(4):2557–2563. doi: 10.1167/iovs.13-13742.

52. Choi J, Jeong J, Cho HS, Kook MS. Effect of nocturnal blood pressure reduction on circadian fluctuation of mean ocular perfusion pressure: a risk factor for normal tension glaucoma. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):831–836. doi: 10.1167/iovs.05-1053.

53. Kim EK, Park HL, Hong KE, Shin DY, Park CK. Investigation of progression pattern and associated risk factors in glaucoma patients with initial paracentral scotomas using Humphrey 10-2. Sci Rep. 2021 Sep 20;11(1):18609. doi: 10.1038/s41598-02197446-6.

54. Hsia Y, Su CC, Wang TH, Huang JY. Clinical characteristics of glaucoma patients with disc hemorrhage in different locations. Graefes Arch Clin Exp Ophthalmol. 2019 Sep;257(9):1955–1962. doi: 10.1007/s00417-019-04379-y.

55. Margeta MA, Ratanawongphaibul K, Tsikata E, Zemplenyi M, Ondeck CL, Kim J, Coleman AL, Yu F, de Boer JF, Chen TC. Disc Hemorrhages Are Associated With Localized Three-Dimensional Neuroretinal Rim Thickness Progression in Open-Angle Glaucoma. Am J Ophthalmol. 2022 Feb;234:188–198. doi: 10.1016/j. ajo.2021.06.021.

56. Lee WJ, Kim YK, Park KH, Jeoung JW. Evaluation of Ganglion Cell-Inner Plexiform Layer Thinning in Eyes With Optic Disc Hemorrhage: A Trend-Based Progression Analysis. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6449–6456. doi: 10.1167/iovs.17-22547.

57. Liu X, Lau A, Hou H, Moghimi S, Proudfoot JA, Chan E, Do J, Camp A, Welsbie D, Gustavo de Moraes C, Girkin CA, Liebmann JM, Weinreb RN. Progressive Thinning of Retinal Nerve Fiber Layer and Ganglion Cell-Inner Plexiform Layer in Glaucoma Eyes with Disc Hemorrhage. Ophthalmol Glaucoma. 2021 SepOct;4(5):541–549. doi: 10.1016/j.ogla.2021.01.003. Epub 2021 Jan 30.

58. De Moraes CG, Prata TS, Liebmann CA, Tello C, Ritch R, Liebmann JM. Spatially consistent, localized visual field loss before and after disc hemorrhage. Invest Ophthalmol Vis Sci. 2009 Oct;50(10):4727–4733. doi: 10.1167/iovs.09-3446.

59. Sakata R, Yoshitomi T, Araie M; for Lower Normal Pressure Glaucoma Study Members in Japan Glaucoma Society. The occurrence of optic disc haemorrhage in primary open-angle glaucoma eyes with lower normal pressure and its relating factors. Acta Ophthalmol. 2021 Feb;99(1):e28–e35. doi: 10.1111/aos.14506.

60. Lee EJ, Kee HJ, Han JC, Kee C. Evidence-based understanding of disc hemorrhage in glaucoma. Surv Ophthalmol. 2021 May-Jun;66(3):412–422. doi: 10.1016/j.survophthal.2020.09.001.