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Офтальмохирургия. 2021; : 73-81

Актуальные вопросы дифференциальной диагностики и тактика лечения врожденных помутнений роговицы у детей

Плескова А. В., Мазанова Е. В., Сорокин А. А.

https://doi.org/10.25276/0235-4160-2021-1-73-81

Аннотация

Цель. Провести анализ литературы на тему врожденных помутнений роговицы, их диагностики, дифференциальной диагностики, а также выбора оптимальной тактики лечения.

Врожденные помутнения роговицы (ВПР) в случаях, когда эффективное лечение запаздывает, приводят обычно к необратимой потере зрительных функций. Подобный диагноз требует неотложных мер. В то же время редкость роговичной патологии у новорожденных и трудности, связанные с их обследованием, порождают ситуацию, когда более или менее определенные клинические подходы к ведению этой патологии остаются неясными для большинства детских офтальмологов.

Полагаясь на собственный опыт и данные литературы, авторы описывают основные опорные пункты дифференциального диагноза и ведения больных с ВПР. Описан достаточно широкий круг аномалий развития, наследственных врожденных дистрофий роговицы и метаболических болезней в качестве ведущих причин ВПР. Наряду с этой диагностической парадигмой даны прогноз и лечебные рекомендации при той или иной врожденной патологии роговицы.

Заключение. На основании представленного обзора даны прогноз и лечебные рекомендации при той или иной врожденной патологии роговицы.

Список литературы

1. Rezende RA, Uchoa UB, Uchoa R, et al. Congenital corneal opacities in a cornea referral practice. Cornea. 2004;23: 565–570. doi: 10.1097/01.ico.0000126317.90271.d8

2. Cotran PR, Bajart AM. Congenital corneal opacities. Intern Opthalm Clinics.1992;32(1): 93–106. doi: 10.1097/00004397-199203210-00010

3. Плескова А.В., Катаргина Л.А., Хватова А.В. Врожденные помутнения роговицы. Российская педиатрическая офтальмология. 2010;2: 46–50.

4. Плескова А.В., Катаргина Л.А. Современные аспекты сквозной кератопластики при различных помутнениях роговицы у детей. Российский офтальмологический журнал. 2011;2: 89–94.

5. Хватова А.В., Плескова А.В. Современное состояние проблемы кератопластики у детей. Вестник офтальмологии.1998;1: 52–56.

6. Michaeli A, Markovich A, Rootman DS. Corneal transplants for the treatment of congenital corneal opacities. Pediatr Ophthalm Strabismus. 2005;42(1):34–44.

7. O’Hara MA, Mannis MJ. Pediatric penetrating keratoplasty. Int Ophthalm Clin. 2013;53(2): 59–70. doi: 10.1097/IIO.0b013e3182782a4b

8. Baron BA. Penetrating keratoplasty. In Сornea. 2nd edition. Boston: Butterworth-Heinemann; 1998.

9. Lowe MT, Keane MC, Coster DJ, Willams KA. The outcome of corneal transplantation in infants, children and adolescent. Ophthalmology. 2011;118(3): 492–497. doi: 10.1016/j.ophtha.2010.07.006

10. McClellan K, Lai T, Grigg J, Billson F. Penetrating keratoplasty in children: visual and graft outcome. Br J Ophthalmol. 2003;87(4): 1212–1214. doi: 10.1136/bjo.87.10.1212

11. Frueh BE. Central corneal diseases. Klin Monbl Augenheilkd. 1999; 214 (5): 291–294. doi: 10.1055/s-2008-1034797

12. Kaufman A, Medow N, Zaidman GW. Managing bilateral or unilateral corneal opacities. J Ped Ophthalmol Strabismus. 1999;36: 78–88. doi: 10.3928/0191-3913-19990301-07

13. Nischal KK, Naor J, Jay V, et al. Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmol. 2002;86: 62–69. doi: 10.1002/jcp.1041600314

14. Escribano J, Hernando N, Ghosh S, et al. cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol. 1994;160: 511–521. doi:10.1002/jcp.1041600314

15. Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005;8(7): 1–17. doi:10.1017/S1462399405010082

16. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol. 1985;29(6): 387–409. doi: 10.1016/0039-6257(85)90205-x

17. Banning CS, Blackmon DM, Song CD, Grossniklaus HE. Corneal perforation with secondary congenital aphakia in Peters anomaly. Cornea. 2005;24(1): 118–120. doi: 10.1097/01.ico.0000134187.19117.6a

18. Арестова Н.Н., Захарова Г.П., Арестов Д.О. Клинико-морфологические особенности аномалии Петерса у детей. В кн.: Пролиферативный синдром в офтальмологии. М.: 2000.

19. Dana MR, Schaumberg DA, Moyes AL, Gomes JA. Corneal transplantation in children with Peters anomaly and mesenchymal dysgenesis: multicenter pediatric keratoplasty study. Ophthalmology. 1997;104(10):1580–1586.

20. Bhandari FS, Whittaker B, Lui M, Lazzaro DR. Peters anomaly: review of the literature. Cornea. 2011;30(8): 939–944.

21. Kim YW, Choi HJ, Kim MK, Wee WR, Yu YS, Oh JY. Clinical outcome of penetrating keratoplasty in patients 5 years or younger: Peters anomaly versus sclerocornea. Cornea. 2013;32(11): 1432–1436.

22. Vajpayee RB, Sharma N, Dada T. Optical sector iridectomy in corneal opacities. Cornea. 1999;18(3): 262–264.

23. Zaidman GW, Rabinowitz Y, Forstot SL. Optical iridectomy for corneal opacities in Peter’s anomaly. J Cataract Refract Surg. 1998;24: 719 722.

24. Townsend WM. Congenital anomalies of the cornea. In: The cornea. New York: Churchill Livingstone; 1988.

25. Matsubara A, Ozeki H, Matsunaga N., et al. Histopathological examination of 2 cases of anterior staphyloma associated with Peters’ anomaly and persistent hyperplastic primary vitreous. Br J Ophthalmol. 2001;85: 1421–1425. doi: 10.1136/bjo.85.12.142

26. Aasuri MK, Garg P, Gokhle N, Gupta S. Penetrating keratoplasty in children. Cornea. 2000;9: 140–144. doi: 10.1097/00003226-200003000-00004

27. Yang LL, Lamber SR, Drews-Botsch C, Stulting RS. Long-term visual outcome of penetrating keratoplasty in infant and children with Peters anomaly. J AAPOS. 2009;13: 1750–180. doi: 10.1016/j.jaapos.2008.10.007

28. Zaidman GW, Juechter K. Peters’ anomaly associated with protruding corneal pseudo staphyloma. Cornea. 1998;17(2): 163–168. doi:10.1097/00003226-199803000-0000

29. Corneal opacification and ectasia. Preferred practice pattern. Am Academy of Ophthalmol. 2000.

30. 30. Limaiem R, Chebil A, Baba A, Ben Youssef N, Midhaieth F, El Matri L. Pediatric penetrating keratoplasty: indications and outcomes. Transplant Proc. 2011;118(3): 492–497. doi: 10.1016/j.transproceed.2011.01.055

31. Ganekal S, Gangangouda C, Dorairaj S. Early outcomes of primary pediatric keratoplasty in patients with acquired, atraumatic corneal pathology. J AAPOS. 2011;15(4): 353–355. doi: 10.1016/j.jaapos.2011.05.002

32. Colby K. Changing times for pediatric keratoplasty. J AAPOS. 2008;12: 223–224. doi: 10.1016/j.jaapos.2008.05.001

33. Vanathi M, Panda A, Vengayil S, Сhudhuri Z, Dada T. Pediatric keratoplasty. Surv Opthalmol. 2009;34:245–271. doi: 10.1016/j.survophthal.2008.12.011

34. Lois N, Kowal VO, Cohen EJ, et al. Indications for penetrating keratoplasty and associated procedures, 1989–1995. Cornea. 1997;16: 623–629. doi: 10.1136/bjo.81.12.1064

35. Frueh BE, Brown SI. Transplantation of congenitally opaque corneas. Br J Ophthalmol. 1997;81: 1064–1069.

36. Althaus C, Sundmacher R. Keratoplasty in newborns with Peter’s anomaly. Ger J Ophtalmol. 1996;5(1):31–35.

37. Cameron JA. Good visual result following early penetrating keratoplasty for Peters’ anomaly. J Pediatr Ophthalmol Strabismus. 1993;30(2): 109–112.

38. Dana MR, Schaumberg DA, Moyes AL, Gomes JA. Corneal transplantation in children with Peters anomaly and mesenchymal dysgenesis: multicenter pediatric keratoplasty study. Ophthalmology. 1997;104(10): 1580–1586. doi: 10.1016/s0161-6420(97)30093-1

39. Doane JF, Sajjadi H, Richardson WP. Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea. 1994;13(5): 454–458. doi: 10.1097/00003226-199409000-00014

40. Kim T. Ultrasound biomicroscopy and histopathology of sclerocornea. Cornea. 1998;17: 443–445. doi: 10.1097/00003226-199807000-00017

41. Mullaney PB, Risco JM, Teichmann K. Congenital hereditary endothelial dystrophy. Ophtalmology. 1995;102(2): 186–192. doi: 10.1016/s0161-6420(95)31037-8

42. Schaumberg DA, Moyes AL, Gomes JA, Dana MR. Corneal transplantation in young children with congenital hereditary endothelial dystrophy. Multicenter pediatric keratoplasty study. Am J Ophthalmol. 1999;27(4): 373–378. doi: 10.1016/s0002-9394(98)00435-8

43. Auw-Hadrich C, Witschel H. Corneal dystrophies in the light of modern molecular genetic research. Ophthalmologe. 2002;99(6): 418–426. doi: 10.1007/s00347-002-0645-6

44. Bron AJ. Genetics of the corneal dystrophies: what we have learned in the past twenty-five years. Cornea. 2000;19(5): 699–711. doi: 10.1097/00003226-200009000-00015

45. Lee ES, Kim EK. Surgical do’s and don’ts of corneal dystrophies. Curr Opin Ophthalmol. 2003;14(4): 186–191. doi: 10.1097/00055735-200308000-00003

46. Sridhar MS, Vemuganti GK, Bansal AK. Anterior stromal puncture in bullous keratopathy: a clinicopathologic study. Cornea. 2001;20(6): 573–579. doi: 10.1097/00003226-200108000-00004

47. Sajjadi H, Javadi MA, Hemmati R. Results of penetrating keratoplasty in CHED. Cornea. 1995;14(1): 18–25.

48. Wilson FM. Congenital anomalies. In: The cornea: scientific foundations and clinical practice. Boston: Little & Brown, 1987.

49. Legeais JM, Jobin D, Pouliquen Y. Keratoplasties chez l’enfant. Analyse sur 10 ans de 127 yeux operes. J Fr Ophtalmol. 1990;13(3): 116–120.

50. Stulting RD, Sumers KD, Cavanagh HD. Penetrating keratoplasty in children. Ophthtalmology. 1984;91(10): 1222–1230.

51. Vanathi M, Panda A, Vengayil S, Chaudhuri Z, Dada T. Pediatric keratoplasty. Surv Ophthalmol. 2009;54(2): 245–271. doi: 10.1016/j.survophthal.2008.12.011

52. Zaidman GW, Flanagan JK, Furey CC. Longterm visual prognosis in children after corneal transplantation surgery for Peters anomaly type 1. Am J Ophthalmol. 2007;144(1): 104–108. doi: 10.1016/j.ajo.2007.03.058

Fyodorov Journal of Ophthalmic Surgery. 2021; : 73-81

Current issues of differential diagnosis and treatment of congenital corneal opacities in children

Pleskova A. V., Mazanova E. V., Sorokin A. A.

https://doi.org/10.25276/0235-4160-2021-1-73-81

Abstract

Purpose. To analyze the literature on the topic of congenital corneal opacities, their diagnosis, differential diagnosis, as well as the choice of optimal treatment tactics.

Congenital corneal opacities (CCO), when effective treatment is delayed, usually lead to permanent loss of visual function. This diagnosis requires urgent measures. On the other hand, the rarity of neonatal corneal pathology and difficulties associated with evaluation of newborns yield the situation when more or less defined clinical practice patterns in such cases remain unclear for most pediatric ophthalmologists.

Based on our own experience and the literature data, we describe the main issues of differential diagnosis and management of CCO in newborns. A broad range of developmental anomalies, congenital hereditary corneal dystrophies and metabolic diseases as the main causes of CCO are reviewed. In addition to this diagnostic paradigm, the prognosis in every particular pathology as well as treatment recommendations are given.

Conclusion. Based on the presented review, the prognosis and therapeutic recommendations for a particular congenital pathology of the cornea are given.

References

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2. Cotran PR, Bajart AM. Congenital corneal opacities. Intern Opthalm Clinics.1992;32(1): 93–106. doi: 10.1097/00004397-199203210-00010

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6. Michaeli A, Markovich A, Rootman DS. Corneal transplants for the treatment of congenital corneal opacities. Pediatr Ophthalm Strabismus. 2005;42(1):34–44.

7. O’Hara MA, Mannis MJ. Pediatric penetrating keratoplasty. Int Ophthalm Clin. 2013;53(2): 59–70. doi: 10.1097/IIO.0b013e3182782a4b

8. Baron BA. Penetrating keratoplasty. In Sornea. 2nd edition. Boston: Butterworth-Heinemann; 1998.

9. Lowe MT, Keane MC, Coster DJ, Willams KA. The outcome of corneal transplantation in infants, children and adolescent. Ophthalmology. 2011;118(3): 492–497. doi: 10.1016/j.ophtha.2010.07.006

10. McClellan K, Lai T, Grigg J, Billson F. Penetrating keratoplasty in children: visual and graft outcome. Br J Ophthalmol. 2003;87(4): 1212–1214. doi: 10.1136/bjo.87.10.1212

11. Frueh BE. Central corneal diseases. Klin Monbl Augenheilkd. 1999; 214 (5): 291–294. doi: 10.1055/s-2008-1034797

12. Kaufman A, Medow N, Zaidman GW. Managing bilateral or unilateral corneal opacities. J Ped Ophthalmol Strabismus. 1999;36: 78–88. doi: 10.3928/0191-3913-19990301-07

13. Nischal KK, Naor J, Jay V, et al. Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmol. 2002;86: 62–69. doi: 10.1002/jcp.1041600314

14. Escribano J, Hernando N, Ghosh S, et al. cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol. 1994;160: 511–521. doi:10.1002/jcp.1041600314

15. Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med. 2005;8(7): 1–17. doi:10.1017/S1462399405010082

16. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol. 1985;29(6): 387–409. doi: 10.1016/0039-6257(85)90205-x

17. Banning CS, Blackmon DM, Song CD, Grossniklaus HE. Corneal perforation with secondary congenital aphakia in Peters anomaly. Cornea. 2005;24(1): 118–120. doi: 10.1097/01.ico.0000134187.19117.6a

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20. Bhandari FS, Whittaker B, Lui M, Lazzaro DR. Peters anomaly: review of the literature. Cornea. 2011;30(8): 939–944.

21. Kim YW, Choi HJ, Kim MK, Wee WR, Yu YS, Oh JY. Clinical outcome of penetrating keratoplasty in patients 5 years or younger: Peters anomaly versus sclerocornea. Cornea. 2013;32(11): 1432–1436.

22. Vajpayee RB, Sharma N, Dada T. Optical sector iridectomy in corneal opacities. Cornea. 1999;18(3): 262–264.

23. Zaidman GW, Rabinowitz Y, Forstot SL. Optical iridectomy for corneal opacities in Peter’s anomaly. J Cataract Refract Surg. 1998;24: 719 722.

24. Townsend WM. Congenital anomalies of the cornea. In: The cornea. New York: Churchill Livingstone; 1988.

25. Matsubara A, Ozeki H, Matsunaga N., et al. Histopathological examination of 2 cases of anterior staphyloma associated with Peters’ anomaly and persistent hyperplastic primary vitreous. Br J Ophthalmol. 2001;85: 1421–1425. doi: 10.1136/bjo.85.12.142

26. Aasuri MK, Garg P, Gokhle N, Gupta S. Penetrating keratoplasty in children. Cornea. 2000;9: 140–144. doi: 10.1097/00003226-200003000-00004

27. Yang LL, Lamber SR, Drews-Botsch C, Stulting RS. Long-term visual outcome of penetrating keratoplasty in infant and children with Peters anomaly. J AAPOS. 2009;13: 1750–180. doi: 10.1016/j.jaapos.2008.10.007

28. Zaidman GW, Juechter K. Peters’ anomaly associated with protruding corneal pseudo staphyloma. Cornea. 1998;17(2): 163–168. doi:10.1097/00003226-199803000-0000

29. Corneal opacification and ectasia. Preferred practice pattern. Am Academy of Ophthalmol. 2000.

30. 30. Limaiem R, Chebil A, Baba A, Ben Youssef N, Midhaieth F, El Matri L. Pediatric penetrating keratoplasty: indications and outcomes. Transplant Proc. 2011;118(3): 492–497. doi: 10.1016/j.transproceed.2011.01.055

31. Ganekal S, Gangangouda C, Dorairaj S. Early outcomes of primary pediatric keratoplasty in patients with acquired, atraumatic corneal pathology. J AAPOS. 2011;15(4): 353–355. doi: 10.1016/j.jaapos.2011.05.002

32. Colby K. Changing times for pediatric keratoplasty. J AAPOS. 2008;12: 223–224. doi: 10.1016/j.jaapos.2008.05.001

33. Vanathi M, Panda A, Vengayil S, Shudhuri Z, Dada T. Pediatric keratoplasty. Surv Opthalmol. 2009;34:245–271. doi: 10.1016/j.survophthal.2008.12.011

34. Lois N, Kowal VO, Cohen EJ, et al. Indications for penetrating keratoplasty and associated procedures, 1989–1995. Cornea. 1997;16: 623–629. doi: 10.1136/bjo.81.12.1064

35. Frueh BE, Brown SI. Transplantation of congenitally opaque corneas. Br J Ophthalmol. 1997;81: 1064–1069.

36. Althaus C, Sundmacher R. Keratoplasty in newborns with Peter’s anomaly. Ger J Ophtalmol. 1996;5(1):31–35.

37. Cameron JA. Good visual result following early penetrating keratoplasty for Peters’ anomaly. J Pediatr Ophthalmol Strabismus. 1993;30(2): 109–112.

38. Dana MR, Schaumberg DA, Moyes AL, Gomes JA. Corneal transplantation in children with Peters anomaly and mesenchymal dysgenesis: multicenter pediatric keratoplasty study. Ophthalmology. 1997;104(10): 1580–1586. doi: 10.1016/s0161-6420(97)30093-1

39. Doane JF, Sajjadi H, Richardson WP. Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea. 1994;13(5): 454–458. doi: 10.1097/00003226-199409000-00014

40. Kim T. Ultrasound biomicroscopy and histopathology of sclerocornea. Cornea. 1998;17: 443–445. doi: 10.1097/00003226-199807000-00017

41. Mullaney PB, Risco JM, Teichmann K. Congenital hereditary endothelial dystrophy. Ophtalmology. 1995;102(2): 186–192. doi: 10.1016/s0161-6420(95)31037-8

42. Schaumberg DA, Moyes AL, Gomes JA, Dana MR. Corneal transplantation in young children with congenital hereditary endothelial dystrophy. Multicenter pediatric keratoplasty study. Am J Ophthalmol. 1999;27(4): 373–378. doi: 10.1016/s0002-9394(98)00435-8

43. Auw-Hadrich C, Witschel H. Corneal dystrophies in the light of modern molecular genetic research. Ophthalmologe. 2002;99(6): 418–426. doi: 10.1007/s00347-002-0645-6

44. Bron AJ. Genetics of the corneal dystrophies: what we have learned in the past twenty-five years. Cornea. 2000;19(5): 699–711. doi: 10.1097/00003226-200009000-00015

45. Lee ES, Kim EK. Surgical do’s and don’ts of corneal dystrophies. Curr Opin Ophthalmol. 2003;14(4): 186–191. doi: 10.1097/00055735-200308000-00003

46. Sridhar MS, Vemuganti GK, Bansal AK. Anterior stromal puncture in bullous keratopathy: a clinicopathologic study. Cornea. 2001;20(6): 573–579. doi: 10.1097/00003226-200108000-00004

47. Sajjadi H, Javadi MA, Hemmati R. Results of penetrating keratoplasty in CHED. Cornea. 1995;14(1): 18–25.

48. Wilson FM. Congenital anomalies. In: The cornea: scientific foundations and clinical practice. Boston: Little & Brown, 1987.

49. Legeais JM, Jobin D, Pouliquen Y. Keratoplasties chez l’enfant. Analyse sur 10 ans de 127 yeux operes. J Fr Ophtalmol. 1990;13(3): 116–120.

50. Stulting RD, Sumers KD, Cavanagh HD. Penetrating keratoplasty in children. Ophthtalmology. 1984;91(10): 1222–1230.

51. Vanathi M, Panda A, Vengayil S, Chaudhuri Z, Dada T. Pediatric keratoplasty. Surv Ophthalmol. 2009;54(2): 245–271. doi: 10.1016/j.survophthal.2008.12.011

52. Zaidman GW, Flanagan JK, Furey CC. Longterm visual prognosis in children after corneal transplantation surgery for Peters anomaly type 1. Am J Ophthalmol. 2007;144(1): 104–108. doi: 10.1016/j.ajo.2007.03.058