The frequency of intraocular hemorrhage in hereditary vitreoretinal dystrophies

Hereditary vitreoretinal degenerations are a heterogeneous group of diseases, which are based on the degenerative changes of the retina and the vitreous. The occurrence of intrahemorrhages is different for different hereditary vitreoretinal degenerations. In some diseases (Wagner's disease, Jensen syndrome, Kniest dysplasia, Marfan's, Ehlers -Danlos syndrome, Alport, Bloch -Sulzberger, Walker -Warburg) intraocular hemorrhages almost never occur. In other vitreoretinopathies (X-linked congenital retinoschisis, familial exudative vitreoretinopathy, Norrie disease, Stickler syndrome), intraocular hemorrhages occur more often. The review describes the genetic aspects of the diseases and their clinical pictures. Special attention is given to the incidence and clinical manifestations of intraocular hemorrhage in the above mentioned vitreoretinopathies // Russian Ophthalmological Journal, 2017; 1: 104-10. doi: 10.21516/2072-0076-2017-10-1-104-110.

наследственные заболевания, витреоретинальные дегенерации, Х-сцепленный врожденный ретиношизис, семейная экссудативная витреоретинопатия, болезнь Норри, синдром Стиклера, внутриглазные кровоизлияния, гемофтальм, hereditary diseases, vitreoretinal degenerations, X-linked congenital retinoschisis, familial exudative vitreoretinopathy, Norrie disease, Stickler syndrome, intraocular hemorrhages, hemophthalmus

1. Lindgren G., Lindblom B. Causes of vitreous hemorrhage. Current Opinion in Ophthalmology. 1996; 7(3): 13-9.

2. Сомов Е. Е., Кутуков А. Ю. Тупые травмы органа зрения. Москва: МЕД прессинформ; 2009.

3. Кански Дж., Милевски С., Дамато Б., Тэннер В. Заболевания глазного дна. Москва: МЕД прессинформ; 2009.

4. Al Harkan D. H., Kahtani E. S., Gikandi P. W., El -Asrar A.M.A. Vitreous hemorrhage in pediatric age group. Journal of Ophthalmology. 2014; Article ID 497083: 12, doi: 10.1155/2014/497083.

5. Анджелова Д.В. Гемофтальм у больных гипертонической болезнью. Вестник офтальмологии. 2005; 4: 28-30.

6. Воробьева И.В. Гемофтальм у больных сахарным диабетом 2-го типа с диабетической ретинопатией. Технологии живых систем. 2012; 9(5): 46-52.

7. Шамбра С.В., Король А.Р. Рецидивирующий гемофтальм при клапанном разрыве сетчатки на фоне сенильного ретиношизиса. Офтальмологический журнал. 2014; 5: 84-6.

8. Тульцева С. Н., Астахов Ю. С. Окклюзии вен сетчатки (этиология, патогенез, клиника, диагностика, лечение). Санкт-Петербург: Издательство Н-Л; 2010.

9. Бровкина А.Ф., ред. Офтальмоонкология. Руководство для врачей. Москва: Медицина; 2002.

10. Conway B.P., Welch R.B. X-chromosome-linked juvenile retinoschisis with hemorrhagic retinal cyst. Am. J. Ophthalmol. 1997; 83(6): 853-5.

11. George N.D., Yates J.R., Moore A.T. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol. 1996; 114: 274-80.

12. Leow S. N., Bastion M-L. C. Familial exudative vitreoretinopathy presenting with unilateral rhegmatogenous retinal detachment in a Malay teenager. BMJ Case Rep. Published online. 2013; May. 5. doi: 10.1136/2013/009664.

13. Fei P., Zhu X., Jiang Z., et al. Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. Sci Rep. Published online. 2015; 4(Nov.). doi: 10.1038 / srep 16120.

14. Мосин И.М. Наследственные витреоретинопатии. В кн.: Бровкина А.Ф, Астахов Ю.С., ред. Руководство по клинической офтальмологии. Москва: МИА; 2014: 375-410.

15. Мосин И.М., Неудахина Е.А., Славинская Н.В., Балаян И.Г., Корх Н.Л. Полиморфизм клинических проявлений Х-сцепленного врожденного ретиношизиса. Офтальмохирургия. 2009; 2: 20-4.

16. Мосин И.М., Мошетова Л.К., Мишустин В.В., Летнева И.А. Буллезная форма Х-сцепленного врожденного ретиношизиса у детей раннего возраста. Вестник офтальмологии. 2001; 1: 40-3.

17. Wang N-K., Liu L., Chen H-M., et al. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis. 2008; 14: 2321-32.

18. George N.D., Yates J.R., Moore A.T. X linked retinoschisis. Br. J. Ophthalmol. 1995; 79: 697-702.

19. Gerth-Kahlert C., Grisanti S., Berger E., et al. Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. J AAPOS. 2011; 15(3): 311-3.

20. Young N. J., Hitcings R. A., Sehim K., Bird A. C. Stickler's syndrome and neovascular glaucoma. Br J Ophthalmol. 1979; 63(12): 826-31.

21. Mooy C.M., Van Den Born L.I., Baarsma S., et al. Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells. Arch Ophthalmol. 2002; 120: 979-84.

22. Huopaniemi L., Rantala A., Tahvanainen E., de la Chapelle A., Alitalo T. Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. Am. J. Hum. Genet. 1997; 60: 1139-49.

23. Haas J. Ueber das Zusammenvorkommen von Veraenderungen der Retina und Choroidea.Arch. Augenheilkd. 1898; 39: 343-8.

24. Xiao Y., Liu X., Tang L., et al. Wang X., Coursy T., Guo X., Li Z. X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family. Sci Rep. 2016; 6: 20118.

25. Molday R. S., Kellner U., Weber B. H. F. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012; 31(3): 195-212.

26. Lee J. J., Kim J. H., Kim S. Y., Park S. S., Yu Y. S. Infantile vitreous hemorrhage as the initial presentation of X-linked juvenile retinoschisis. Korean. J Ophthalmol. 2009; 23(2): 118-20.

27. Ali A., Foreze A. H., Rizvi Z. H., Rehman T. U. Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. Am J Ophthalmol. 2003; 136(4): 767-9.

28. Sauer C.G., Gehrig A., Warneke-Wittstock R., et al. Positional cloning of the gene associated with x-linked juvenile retinoschisis. Nat Genet. 1997; 17: 164-70.

29. Molday L.L., Hicks D., Sauer C.G., Weber B.H., Molday R.S. Expression of x-linked retinoschisis protein rs1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci. 2001; 42: 816-25.

30. Ma X., Li X., Wang L. Novel xlrs1 gene mutations cause x-linked juvenile retinoschisis in chinese families. Jpn. J. Ophthalmol. 2008; 52: 48-51.

31. Lesch B., Szabo V., Kanya M., et al. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis. 2008; 14: 2321-32.

32. Tantri A., Vrabec T.R., Cu-Unjieng A., et al. X-linked retinoschisis: a clinical and molecular genetic review. Surv. Ophthalmol. 2004; 49: 214-30.

33. Sikkink S. K., Biswas S., Parry N. R. A., Stanga P. E., Trump D. X-linked retinoschisis: an update. J Med Genet. 2007; 44(4): 225-32.

34. Vijayasarathy C., Sui R., Zeng Y., et al. Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat. 2010; 31(11): 1251-60.

35. Mc Kibbin M., Booth A.P., George N.D.L. Foveal ectopia in X-linked retinoschisis. Retina. 2001; 21: 361-6.

36. Kim J. E., Ruttum M. S., Koeberl M. J., Hassemer E. L., Sidjanin D. J. Genetic and clinical evaluation of juvenile retinoschisis. J AAPOS. 2009; 13(2): 215-7.

37. Kawano K., Tanaka K., Murakami F., Ohba N. Congenital hereditary retinoschisis: evolution at the initial stage. Albrecht. v. Graefes Arch. Ophthalmol. 1981; 217(4): 315-23.

38. Criswick V. G., Schepens C. L. Familial exudative vitreoretinopathy. Am. J. Ophthalmol. 1969; 68: 578-94.

39. Gow J., Oliver G. L. Familial exudative vitreoretinopathy. An expanded view. Arch. Ophthalmol. 1971; 86: 150-5.

40. Canny C. L., Oliver G. L. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol.1976; 94: 1114-20.

41. Laqua H. Familial exudative vitreoretinopathy. Arch Clin. Exp. Ophthalmol. 1980; 213(2): 121-33.

42. Yang H., Li S., Xiao X., et al. Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. Mol Vis. 2012; 18: 2438-46.

43. Yang H., Xiao X., Li S., Mai G., Zhang Q. Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. Mol. Vis. 2011; 17: 1128-35.

44. Poulter J. A., Ali M., Gilmour D. F., et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am. J. Hum. Genet. 2010; 86(2): 248-53.

45. Toomes C., Bottomley H.M., Jackson R.M., et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am. J. Hum. Genet. 2004; 74: 721-30.

46. Kondo H., Kusaka S., Yoshinaga A., et al. Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. Am. J. Ophthalmol. 2011; 151: 1095-100.

47. Gilmour D. F. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015; 29(1): 1-14.

48. van Nouhuys C.E. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am. J. Ophthalmol. 1991; 111: 34-41.

49. Miyakubo H., Hashimoto K., Miyakubo S. Retinal vascular in familial exudative vitreoretinopathy. Ophthalmology. 1984; 91: 1524-30.

50. Nijhuis F. A., Deuntman A. F., Aan de Kerk A. L. Fluorescein angiography in mild stager of dominant exudative vitreoretinopathy. Mod. Probl. Ophthalmol. 1979; 20: 107-14.

51. Wilkinson C. P. Evidence-based analysis of prophylactic treatment of asymptomatic retinal and lattice degeneration. Ophthalmology. 2000; 107(1): 12-5.

52. Van Nouhuys C.E. Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. Doc. Ophthalmol. 1982; 54(1-4): 1-414.

53. Camp G.V., Snoeckx R. L., Hilgert N., et al. A New Autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am. J. Hum. Genet. 2006; 79(3): 449-57.

54. Карельян В.И., Тимолянова Е.К., Байбикова Г.Ш. Системный подход в диагностике заболеваний сетчатки (2 случая синдрома Стиклера). Современные технологии в офтальмологии. 2014; 1: 58-9.

55. Snead M.P., McNinch A.M., Poulson A.V., et al. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (Lond). 2011; 25(11): 1389-400.

56. Richards A. J., Martin S., Yates J. R. W., et al. COL2 A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br. J. Ophthalmol. 2000; 84: 364-71.

57. Alshahrani S. T., Ghazi N. G., Al-Rashaed S. Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. Clin Ophthalmol. 2016; 10: 1-6.

58. Stickler G.B., Belau P.G., Farrell F.J., et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin. Proc. 1965; 40: 433-55.

59. Richards A. J., Baguley D. M., Yates J. W., et al. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Published online. 2000; Sep. 25. doi: 10.1016/S0002-9297(07)62938-3.

60. Rishi P., Maheshwari A., Rishi E. Stickler syndrome Indian. J Ophthalmol. 2015; 63(7):614-5.

61. Gerth-Kahlerrt C., Grisanti S., Berger E., et al. Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. JAAPOS. 2011; 15(3): 311-13.

62. Smith S. E., Muller T. E., Graham D., Sims K. B., Rehm H. L. Norrie disease: extraocular clinical manifestations in 56 patients. Am. J. Med. Genet A. 2012; 158A(8): 1909-17.

63. Warburg M. Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol (Copenh). 1966; 89:1-47.

64. Liu D., Hu Z., Peng Y., et al. A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. Mol Vis. 2010; 16: 2653-8.

65. Aponte E.P., Pulido J.S., Ellison J.W., Quiram P.A., Mohney B.G. A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy. Ophthalmic Genet. 2009; 30: 99-102.

66. Хлебникова О.В., Дадали Е.Л. Наследственная патология органа зрения. Москва: Авторская академия; 2014.

67. Xu Q., Wang Y., Dabdoub A., et al. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004; 116: 883-95.

68. Michaelides M., Luthert P. J., Moore A. T., Cooling R., Firth H. Norrie disease and peripheral venous insufficiency. Br. J. Ophthalmol. 2004; 88(11): 1475.

69. Hatsukawa Y., Nakao T., Yamagishi T., Okamoto N., Isashiki Y. Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family. Br. J. Ophthalmol. 2002; 86(12): 1452-3.