Современный взгляд на эпидемиологию, классификацию и генетику закрытоугольной глаукомы

Первичная закрытоугольная глаукома (ПЗУГ) является одной из наиболее неблагоприятных форм глаукомы с точки зрения нарушения зрительных функций. В статье представлен обзор литературы с описанием современных данных об эпидемиологии, классификации и генетике закрытоугольной глаукомы. Факторами риска ПЗУГ являются: пожилой возраст, женский пол, азиатская и эскимосская расы. К анатомическим факторам риска закрытия угла передней камеры глаза относятся маленькая ширина, площадь и объем передней камеры, толстая радужка с большой кривизной и большая кривизна хрусталика. Снижение плотности коллагена I типа в ткани радужной оболочки связано с уменьшением площади радужки и увеличением ширины передней камеры, что может способствовать прогрессированию заболевания. Радужная оболочка глаз пациентов с ПЗУГ в анамнезе значительно более жесткая по сравнению со здоровыми. Несмотря на то, что строго наследуемые мутации, характерные для ПЗУГ, до сих пор не идентифицированы, ПЗУГ можно назвать мультифакториальным, генетически детерминированным заболеванием, которое является результатом взаимодействия генетических и эпигенетических факторов. Учет генетических полиморфизмов и других биомаркеров значительно повысит эффективность диагностики и лечения заболевания.

закрытоугольная глаукома, эпидемиология, классификация, генетика, полиморфизм, острый приступ глаукомы, угол передней камеры

1. Tham Y.C., Li X., Wong T.Y., Quigley H.A., Aung T. et al. Global prevalence of glaucoma and projections of glaucoma burden through 2040: A systematic review and meta-analysis. Ophthalmology. 2014; 121(11): 2081-2090.

2. Glaucoma: clinic, diagnosis, treatment: a practical guide for a general practitioner / ed. A.V. Kuroyedov, Yu.I. Razhko, O.N. Onufriychuk, D.A. Baryshnikova. - M.: Publishing House «Ophthalmology», 2020. - 40 p. (In Russ.).

3. Kuroyedov A.V., Abysheva L.D., Avdeev R.V., Alexandrov A.S., Basinsky A.S., Blyum E.A. et al.Intraocular pressure level in various local hypotensive therapy in primary open-angle glaucoma (multicenter study). Ophthalmology Eastern Europe. 2016; 6(1):27-42. (In Russ.).

4. Avdeev R.V., Alexandrov A.S., Bakunina N.A., Belaya D.A., Brezhnev A.Yu. Volkova N.V. et al. Analysis of variants of hypotensive treatment of patients with primary open-angle glaucoma by results of multicenter study in clinics of six countries. Medical and Biological Problems of Life. 2018; 1(19):95-111. (In Russ.).

5. Krishnadas R. Current management options in primary angle closure disease. Indian J Ophthalmol. 2019; 67(3):321-323. doi: 10.4103/ijo.IJO_1932_18.

6. Varma D.K., Simpson S.M., Rai A.S., Ahmed I.K. Undetected angle closure in patients with a diagnosis of open-angle glaucoma. Can J Ophthalmol. 2017; 52(4):373-378. doi: 10.1016/j.jcjo.2016.12.010.

7. European Glaucoma Society Terminology and Guidelines for Glaucoma, 4th edition - Chapter 2: Classification and terminology supported by the EGS foundation: Part 1: Foreword; Introduction; Glossary; Chapter 2 Classification and Terminology. Br J Ophthalmol. 2017; 101(5):73-127.

8. Foster P.J., Baasanhu J., Alsbirk P.H. et al. Glaucoma in Mongolia. A population-based survey in Hovsgol province, northern Mongolia. Arch Ophthalmol. 1996; 114(10): 1235-1241.

9. Quigley H.A., Broman A.T. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006; 90(3): 262-267. doi: 10.1136/bjo.2005.081224.

10. National glaucoma guidelines: for medical practitioners. 4rd ed. Ed. by E.A. Egorov, V.P. Erichev. Moscow: GEOTAR-Media; 2019. 384 p. (In Russ.). doi: 10.33029/9704-5442-8-GLA-2020-1-384.

11. Markova A.A., Gorbunova N.Yu., Pozdeyeva N.A. Angle-closure glaucoma with plateau iris. National Journal glaucoma. 2018;17(4):80-90. (In Russ.).

12. Ng W.S., Ang G.S., Azuara-Blanco A. Primary angle closure glaucoma: a descriptive study in Scottish Caucasians. Clin Exp Ophthalmol. 2008; 36(9):847-451. doi: 10.1111/j.1442-9071.2008.01904.x.

13. Sakai H., Morine-Shinjyo S., Shinzato M. et al. Uveal effusion in primary angle-closure glaucoma. Ophthalmology. 2005; 112(3):413-419.

14. Lavanya R., Wong T.Y., Friedman D.S. et al. Determinants of angle closure in older Singaporeans. Arch Ophthalmol. 2008; 126 (5):686-691. doi: 10.1001/archopht.126.5.686.

15. Nongpiur M.E., Ku J.Y., Aung T. Angle closure glaucoma: a mechanistic review. Curr Opin Ophthalmol. 2011; 22(2):96-101. doi: 10.1097/ICU.0b013e32834372b9.

16. Avetisov K.S., Markosyan A.G. Assessment of age-related features of acoustic density and biometric relationships of the lens on the basis of combined ultrasound examination. Bulletin of Ophthalmology. 2013; 129 (3):16-23.

17. Razeghinejad M.R., Myers J.S. Contemporary approach to the diagnosis and management of primary angle-closure disease. Surv Ophthalmol. 2018; 63(6):754-768. doi: 10.1016/j.survophthal.2018.05.001.

18. Ermolaev A.P. On the connection of the primary manifestations of angle-closure glaucoma with the appearance of posterior vitreous detachment. Bulletin of Ophthalmology. 2013; 129(2):23-27.

19. Nongpiur M.E., Ku J.Y., Aung T. Angle closure glaucoma: a mechanistic review. Curr Opin Ophthalmol. 2011; 22(2):96-101. doi: 10.1097/ICU.0b013e32834372b9.

20. Еrmolaev A.P., Ilinskaja M.V., Melnikova L.I. The role of posterior vitreous detachment origin in the pathogenesis of primary angle-closure glaucoma. National Journal glaucoma. 2016; 15(2):3-10. (In Russ.)

21. Zueva M.V. Dynamics of retinal ganglion cell death in glaucoma and its functional markers. National Journal glaucoma. 2016; 15 (1):70-85. (In Russ.)

22. Foster P.J., Buhrmann R., Quigley H.A. Johnson G.J. The definition and classification of glaucoma in prevalence surveys. Br J Ophthalmol. 2002; 86(2):238-242. doi: 10.1136/bjo.86.2.238.

23. Do T., Nguyen Xuan H., Dao Lam H. et al. Ultrasound biomicroscopic diagnosis of angle-closure mechanisms in vietnamese subjects with unilateral angle-closure glaucoma. J Glaucoma. 2018; 27(2):115-120. doi: 10.1097/IJG.0000000000000856.

24. Moghimi S., Torkashvand A., Mohammadi M. et al. Classification of primary angle closure spectrum with hierarchical cluster analysis. PLoS One. 2018; 13(7):e0199157. doi: 10.1371/journal.pone.0199157.

25. Winegarner A., Miki A., Kumoi M. et al. Anterior segment Scheimpflug imaging for detecting primary angle closure disease. Graefes Arch Clin Exp Ophthalmol. 2019; 257(1):161-167. doi: 10.1007/s00417-018-4171-x.

26. Li S., Shao M., Cao W., Sun X. Association between pretreatment serum uric acid levels and progression of newly diagnosed primary angle-closure glaucoma: a prospective cohort study. Oxid Med Cell Longev. 2019; 1-10. ID:7919836. doi: 10.1155/2019/7919836.

27. Marchini G., Chemello F., Berzaghi D., Zampieri A. New findings in the diagnosis and treatment of primary angle-closure glaucoma. Prog Brain Res. 2015; 221:191-212. doi: 10.1016/bs.pbr.2015.05.001.

28. Fea A.M., Dallorto L., Lavia C. et al. Long-term outcomes after acute primary angle closure of Caucasian chronic angle closure glaucoma patients. Clin Exp Ophthalmol. 2018; 46(3):232-239. doi: 10.1111/ceo.13024

29. Kwon J., Sung K.R., Han S. Long-term changes in anterior segment characteristics of eyes with different primary angle-closure mechanisms. Am J Ophthalmol. 2018; 191:54-63. doi: 10.1016/j.ajo.2018.04.005.

30. Nongpiur M.E., Verma S., Tun T.A. et al. Plateau iris and severity of primary angle closure glaucoma. Am J Ophthalmol. 2020; 220:1-8. doi: 10.1016/j.ajo.2020.07.033.

31. Verma S., Nongpiur M.E., Oo H.H. et al. Plateau iris distribution across anterior segment optical coherence tomography defined subgroups of subjects with primary angle closure glaucoma. Invest Ophthalmol Vis Sci. 2017; 58 (12):5093-5097. doi: 10.1167/iovs.17-22364.

32. Chung C., Dai M., Lin J., Wang Z., Chen H., Huang J. Correlation of iris collagen and in-vivo anterior segment structures in patients in different stages of chronic primary angle-closure in both eyes. Indian J Ophthalmol. 2019; 67(10):1638-1644. doi: 10.4103/ijo.IJO_1406_18.

33. Pant A.D., Gogte P., Pathak-Ray V., Dorairaj S.K., Amini R. Increased iris stiffness in patients with a history of angle-closure glaucoma: an image-based inverse modeling analysis. Invest Ophthalmol Vis Sci. 2018; 59(10):4134-4142. doi: 10.1167/iovs.18-24327.

34. Wang W., Li X., Chen S., Huang W., Zhang X. Biometric differences between unilateral chronic primary angle closure glaucoma and fellow non-glaucomatous eyes. Semin Ophthalmol. 2018; 33 (5):595-601. doi: 10.1080/08820538.2017.1375121.

35. Huang J., Wang Z., Wu Z., Li Z., Lai K., Ge J.Comparison of ocular biometry between eyes with chronic primary angle-closure glaucoma and their fellow eyes with primary angle-closure or primary angle-closure suspect. J Glaucoma. 2015; 24(4):323-327. doi: 10.1097/IJG.0b013e31829e55cd.

36. Nongpiur M.E., Khor C.C., Jia H. et al. ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. PLoS Genet.2014; 10(3): e1004089. doi: 10.1371/journal.pgen.1004089.

37. Zhuang W., Wang S., Hao J. et al. Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China. PLoS ONE. 2018; 13(11):e0206935. doi: 10.1371/journal.pone.0206935.

38. Khor C.C., Do T., Jia H., Nakano M. et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2016; 48:556-562. doi: 10.1038/ng. 3540.

39. Awadalla M.S., Thapa S.S., Hewitt A.W., Burdon K.P., Craig J.E. Association of genetic variants with primary angle closure glaucoma in two different populations. PloS one. 2013, 8(6):e67903. doi: 10.1371/journal.pone. 0067903.

40. Inamori Y., Ota M., Inoko H., Okada E., Nishizaki R., Shiota T. et al. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet. 2007; 122(2):151-157. doi: 10.1007/s00439-007-0388-1.

41. Norman R.E., Flanagan J.G., Sigal I.A. et al. Finite element modeling of the human sclera: influence on optic nerve head biomechanics and connections with glaucoma. Exp Eye Res. 2011; 93(1):4-12. doi: 10.1016/j.exer.2010.09.014.

42. Micheal S., Yousaf S., Khan M.I. et al. Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population. Mol Vis. 2013; 19:441-447.

43. Awadalla M.S., Burdon K.P., Kuot A., et al. Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population. Mol Vis. 2011; 17:1420-1424. doi: 10.1371/journal.pone.0023609.

44. Zeng K., Zhong B., Fang M., Shen X.L, Huang L.N.Common polymorphisms of the hOGG1, APE1 and XRCC1 genes correlate with the susceptibility and clinicopathological features of primary angle-closure glaucoma. Biosci Rep. 2017; 37(3:BSR20160644. doi: 10.1042/BSR20160644.

45. Zhong Y., Guo X., Xiao H. et al. Flat anterior chamber after trabeculectomy in secondary angle-closure glaucoma with BEST1 gene mutation: case series. PLoS ONE. 2017; 12(1):e0169395. doi: 10.1371/journal.pone.0169395.

46. Crowley C., Paterson R., Lamey T. et al. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma. Doc Ophthalmol. 2014, 129(1):57-63. doi: 10.1007/s10633-014-9444-z.

47. Personalized medicine: a monograph (in 7 volumes). Volume 1: S.N. Shcherbo, D.S. Shcherbo. Biological bases. M., RUDN Publishing House, 2016, 224 p. (In Russ.)

48. Razhko Yu.I., Glushnev I.A., Rebenok N.A., Kuroyedov A.V., Brezhnev A.Yu. Novel approaches to glaucoma treatment (review of patents). National Journal glaucoma. 2021; 20(2):72-80. (In Russ.) doi: 10.25700/2078-4104-2021-20-2-72-80.

49. Bakunina N.A., Shcherbo S.N. Methods of personalized medicine in ophthalmology: endocrine ophthalmopathy. Medical alphabet. 2017; 2(20):5-8. (In Russ.).