GENETIC PREDICTORS OF THE DEVELOPMENT OF RETINAL VESSELS OCCLUSION

DOI: https://doi.org/None

Sh.S. Kaghktsyan, L.K. Moshetova, K.I. Turkina, D.A. Sychev Russian Medical Academy of Postgraduate Education, Barrikadnaya St., 2/1, Moscow, 125993, Russian Federation

Retinal vascular occlusion is one of the most severe vascular lesions of the eye, leading to permanent disability. Approximately 16 million adults in the world have this pathology at the age over 40 years. Typically, the disease occurs acutely as a result of mechanical obstruction at the level of the central retinal vein (CRV) or its branches. It is known that the occlusion of the retinal vessels can be caused by external compression of the pathologically changed artery or by intravascular factors such as hypercoagulable syndrome and thrombophilia. Nevertheless, despite the large number of publications devoted to this problem, the etiology of the disease remains to be unknown and views on the pathogenesis differ and sometimes contradict each other. One of the factors leading to occlusion of the retinal vessels is the polymorphism of genes encoding products of coagulation system regulation which lead to changes in hemodynamics. It should be noted that in recent years occlusion of retinal vessels is observed more frequently among young people, according to this more attention is paid to genetic factors. Fundamental works in recent years indicate to significant contribution to the genetic «damage» in the hemostatic system. This makes it necessary to study and develop diagnostic criteria of occlusion of retinal vessels, through the study of the mechanisms of coagulation disorders and genetic damage.
Keywords: 
occlusion of retinal vessels, genetic factors of the coagulation system, thrombophilia
Список литературы: 
  1. Kacnel`son L.A., Lysenko V.S., Balishanskaya T.N. Klinicheskiy atlas patologii glaznogo dna. M.: GE`OTAR-Media, 2008; 38–41.[Katsnel’son L.A., Lysenko V.S., Balishanskaya T.N. Clinical Atlas of eye fundus pathology. M.: GEOTAR-Media, 2008; 38–41 (in Russian)]
  2. Hayreh S.S., Zimmerman B., Podhajsky P. Incidence of various types of retinal vein occlusion and their recurrence and demographic characteristics. Am. J. Ophthalmol. 1990; 117: 429–41.
  3. Kopaeva V.G. Glaznye bolezni osnovy oftal`mologii. M.: MEDICINA, 2012; 444–6.[Kopaeva V.G. Eye diseases foundations of ophthalmology. M.: MEDITsINA, 2012; 444–6 (in Russian)]
  4. Kanski Dzh.Dzh., Milevski S.A., Damato B.E`., Te`nner V. Zabolevanie glaznogo dna. M.: MEDpress-inform, 2009; 60–74.[Kanski Dzh.Dzh., Milevski S.A., Damato B.E., Tenner V. Diseases of the eye fundus. M.: MEDpress-inform, 2009; 60–74 (in Russian)]
  5. Canonico M., Plu-Bureau G., Lowe G.D.O., Scarabin P.-Y. Hormone replament therapy and risk of venous thromboembolism in postmenopausal women systematic review and meta- analysis. BM. J. 2008; 336: 1227–31.
  6. Rehak M., Wiedemann P. Retinal vein thrombosis pathogenesis and management. J. of thrombosis and hemostasis. 2010; 8.
  7. Trullo M., Pasca S., Daminato R., Dello Russo P., Venturelli U., Barilla G.Retinal vein occlusion: evaluation of «classic» and «emerging» risk factors and treatment. Center of hemorrhagic and thrombotic diseases. 2010; 29: 459–64.
  8. Johnson T.M., Defrawy E.I., Hodge W.G., Leonard B.C., Kertes P.J., Taylor S. Prevalence of factor V Leiden and activated protein C resistance in central retinal vein occlusion. Retina. 2001; 21 (2): 161–6.
  9. Mrad M., Fekih-Mrissa N., Waltek C., Rannen R., Gabsi S. Thrombotic risk factors in different types of retinal vein occlusion in Tunisian patients. J. stroke cerebrovascular. 2014; 6: 1592–8.
  10. Kozlova T.V. Rasprostrannenost` gipergomocisteinemii i ee svyaz` s mutaciyami v gene metilentetragidrofolatreduktazy u bol`nyh s venoznymi trombozami i zdorovyh lic. Angiologiya i sosudistaya hirurgiya. 2006; 12 (1): 32–8.[Kozlova T.V. Hyperhomocysteinemia prevalance and its relationship with mutations in gene metilentetragidrofolatreductase in patients with venous thrombosis and healthy individuals. Angiologiya I sosudistaya khirurgiya. 2006; 12 (1): 32–8 (in Russian)]
  11. Tul`ceva S.N. Znachenie gipergomocisteinemii v patogeneze ishemicheskogo tromboza ven setchatki. Oftal`mologicheskie vedomosti. 2008; 1 (3): 31–9.[Tul’tseva S.N. The importance of hyperhomocysteinemia in the pathogenesis of retinal vein ischemic thrombosis, Oftal’mologicheskie vedomosti. 2008; 1 (3): 31–9 (in Russian)]
  12. Mrad M., Wathek C., Saleh M.B., Bautour M., Rannen R., Lamine K., Gabsi S., Gritli N., Fekih-Mrissa N. Association of methylentetrahydrofolatereductase (A1298C and C677T) polymorphisms with retinal vein occlusion in Tunisian patients. Transfus Apher Sci. 2014; 50 (2): 283–7.
  13. Sottilotta G., Siboni S., Latella C., Oriana V., Romeo E., Santoro R., Consonni D., Lombardo V. Hyperhomocysteinemia and C677T MTHFR genotype in patients with retinal vein thrombosis. J. Clinical and applied thrombosis and hemostasis. 2010.
  14. Tul`ceva S.N., Varganova T.S., Rahmanov V.V. Covremennye napravleniya tromboticheskoy terapii pri lechenii tromboza central`noy veny setchatki. Oftal`mologicheskie vedomosti. 2009; 2 (2): 6–14.[Tul’tseva S.N., Varganova T.S., Rakhmanov V.V. Modern trends of thrombotic therapy in treatment of central retinal vein, Oftal’mologicheskie vedomosti. 2009; 2 (2): 6–14 (in Russian)]
  15. Balta G., Altay C., Gurgey A. pai-1 GENE 4G/5G genotype: A risk factor for thrombosis in vessels of internal organs. Am. J. Hematol. 2002; 12: 89–93.
  16. Tul`ceva S.N. Trombofiliya kak faktor riska razvitiya trombozov central`noy veny setchatki u lic molodogo vozrasta. Oftal`mologicheskie vedomosti. 2008; I (1): 46–51.[Tul’tseva S.N.Thrombophilia as a risk factor for the thrombosis development of the central retinal vein in young adults, Oftal’mologicheskie vedomosti. 2008; I (1): 46–51 (in Russian)]
  17. Tul`ceva S.N., Astahov Yu.S. Okklyuzii ven setchatki. SPb.: N-L, 2010; 7–39.[Tul’tseva S.N., Astakhov Yu.S. Retinal vein occlusion. SPb.: N-L, 2010; 7–39 (in Russian)]
  18. Oldenburg J., Carville G., Clemens R., Muller R. et al. Vitamin K Epoxide Reductase Complex Subunit 1 (VKORC1) the key protein of the Vitamin K cycle. Antioxidants & redox signaling. 2006; 8 (3): 347–53.
  19. Ortak H., Sogut E., Demir H., Ardagil A., Benli I., Sahin S. Predictive value of the vitamin K epoxide reductase complex subunit 1 G-1639A and C1173T single nucleotide polymorphisms in retinal vein occlusion. Clinical and experimental ophthalmology. 2012; 1–6.