Congenital glaucoma: literature review
https://doi.org/10.25700/NJG.2019.02.11
Abstract
Despite the rare incidence of childhood glaucoma in the routine practice of an ophthalmologist, the status of a disabling disease dictates the need to treat this group of patients as carefully and warily as possible. Difficulties with the diagnosis, the choice of the optimal treatment algorithm and the subsequent tactics of monitoring patients with pediatric glaucoma necessitated detailed coverage of this pathology with the accumulation and systematization of data from various sources. The review combines the concepts of etiology, pathogenesis, classification, and also focuses on diagnostic criteria and therapeutic approaches in the management of patients with pediatric glaucoma. The current data on the genetics of the disease are detailed, the underlying mechanisms for the development of glaucoma in children are highlighted, and various classification systems are also reviewed. International criteria for diagnosis are also included. Attention is drawn to the importance of choosing a pathogenetically substantiated surgical technique. The importance of timely verification of the diagnosis and promptly initiated treatment is emphasized. Despite the aggressiveness and refractory nature of the disease, it is possible, with promptly and adequately taken measures, to maintain sufficiently high visual functions for the patient to continue an independent lifestyle.
About the Authors
A. K. LazarevaRussian Federation
M.D.
10 Kolkhidskaya str.,Novosibirsk, Russian Federation, 630096
O. N. Kuleshova
Russian Federation
Med.Sc.D., Professor, Head of the Ophthalmology Department.
10 Kolkhidskaya str.,Novosibirsk, Russian Federation, 630096
52 Krasnyi prospect str., Novosibirsk, Russian Federation, 630091
S. V. Aidagulova
Russian Federation
Ph.D. in Biological sciences, Professor.
52 Krasnyi prospect str., Novosibirsk, Russian Federation, 630091
V. V. Chernykh
Russian Federation
Med.Sc.D., Professor, Director.
10 Kolkhidskaya str.,Novosibirsk, Russian Federation, 630096
References
1. Biglan A.W. Glaucoma in children: Are we making progress? J Am Assoc Pediatr Ophthalmol Strabismus. 2006; 10:7-21. doi: 10.1016/j. jaapos.2005.10.001
2. Fung D.S., Roensch M.A., Kooner K.S., Cavanagh H.D. et al. Epidemiology and characteristics of childhood glaucoma: results from the Dallas Glaucoma Registry. Clin Ophthalmol. 2013; 7:1739-1746. doi: 10.2147/opth.s45480
3. MacKinnon J.R., Giubilato A., Elder J.E., Craig J.E. et al. Primary infantile glaucoma in an Australian population. Clin Exp Ophthalmol. 2004; 32(1):14-18. doi: 10.1046/j.1442-9071.2004.00750.x
4. Tamcelik N., Atalay E., Bolukbasi S., Çapar O. et al. Demographic features of subjects with congenital glaucoma. Indian J Ophthalmol. 2014; 62(5):565-569. doi: 10.4103/0301-4738.126988
5. Saidasheva E.I., Somov E.E., Fomina N.V. Izbrannye lektsii po neonatal’noi oftal’mologii [Selected lectures on neonatal ophthalmology]. SPb.; 2006; 272 p. (In Russ.).
6. Francois J. Congenital glaucoma and its inheritance. Ophthalmologica. 1980; 181(2):61-73. doi: 10.1159/000309028
7. Papadopoulos M., Cable N., Rahi J., Khaw P.T., BIG Eye Study Investigators. The British Infantile and Childhood Glaucoma (BIG) Eye Study. Invest Opthalmol Vis Sci. 2007; 48(9):4100-4106. doi: 10.1167/iovs.06-1350
8. Gencik A., Gencikova A., Ferak V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum Genet. 1982; 61(3):193-197. doi: 10.1007/bf00296440
9. Sidorenko E.I. Glaucoma of childhood. RMJ. Clinical Ophthalmology. 2003; 4(2):55-57. (In Russ.).
10. Faiq M., Sharma R., Dada R., Mohanty K. et al. Genetic, biochemical and clinical insights into primary congenital glaucoma. J Curr Glaucoma Practice. 2013; 7(2):66-84. doi: 10.5005/jp-journals-10008-1140
11. Stoilov I., Akarsu A.N., Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997; 6:641-647. doi: 10.1093/hmg/6.4.641
12. Sarfarazi M., Stoilov I., Schenkman J.B. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am. 2003; 16(4):543-554. doi: 10.1016/s0896-1549(03)00062-2
13. Reis L.M., Tyler R. C., Weh E., Hendee K.E. et al. Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Mol Vis. 2016; 22:1229-1238. PMCID: PMC5070572
14. Lewis C.J., Hedberg-Buenz A., DeLuca A.P., Stone E.M. et al. Primary congenital and developmental glaucomas. Hum Mol Genet. 2017; 26(1):28-36. doi: 10.1093/hmg/ddx205.
15. Mauri L., Uebe S., Sticht H., Vossmerbaeumer U. et al. Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Orphanet J Rare Diseases. 2016; 11:108. doi: 10.1186/s13023-016-0495-y.
16. Tanwar M., Dada T., Sihota R., Dada R. Mitochondrial DNA analysis in primary congenital glaucoma. Mol Vis. 2010; 16:518-533. PMCID: PMC2846849
17. Stone E.M., Fingert J.H., Alward W.L., Nguyen T.D. Identification of a gene that causes primary open angle glaucoma. Science. 1997; 275(5300):668-670.
18. Kubota R., Noda S., Wang Y., Minoshima S. et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics. 1997; 41(3):360-369.
19. Wentz-Hunter K., Ueda J., Shimizu N., Yue B.Y. Myocilin is associated with mitochondria in human trabecular meshwork cells. J Cell Physiol. 2002; 190: 46-53.
20. Fingert J.H., Hеon E., Liebmann J.M., Yamamoto T. et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999; 8(5):899-905.
21. Gupta V., Somarajan B.I., Gupta S., Chaurasia A.K. et al. The inheritance of juvenile onset primary open angle glaucoma. Clin Genet. 2017; 92(2):134-142. doi: 10.1111/cge.12906.
22. Yu-Wai-Man C., Arno G., Brookes J., Garcia-Feijoo J. et al. Primary congenital glaucoma including next-generation sequencingbased approaches: clinical utility gene card. Eur J Hum Genet. 2018; 26:1713-1718. doi: 10.1038/s41431-018-0227-y
23. Shohdy K.S., Rashad W.A., Fargoun M.K., Urban P. The morphogen behind primary congenital glaucoma and the dream of targeting. Rom J Morphol Embryol. 2017; 58(2):351-361.
24. Vincent A.L., Billingsley G., Buys Y., Levin A.V. et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002; 70:448-460. doi: 10.1086/338709
25. Sidorov E.G., Mirzayants M.G. Vrozhdennaya glaukoma i ee lechenie [Congenital glaucoma and its treatment]. Moscow, Meditsina Publ.; 1991. 208 p. (In Russ.).
26. Avetisov E.S., Kashchenko T.P., Shamshinova A.M. Zritel’nye funktsii i ikh korrektsiya u detei [Visual functions and their correction in children] Moscow, Meditsina Publ.; 2005. 872 p. (In Russ.).
27. Garcia-Anton M.T., Salazar J.J., Hoz R., Rojas B. et al. Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. PLoS One. 2017; 12(4). doi: 10.1371/journal.pone.0176386
28. Katargina L.A., Kogoleva L.V. Clinical and pathogenetic features of glaucoma in children with retinopathy of prematurity. Russian Ophthalmological Journal. 2008; 1(1):17-21. (In Russ.).
29. Zertsalova M.A., Brzheskii V.V. Peculiarities of glaucoma course in children with premature retinopathy. RMJ Clinical Ophthalmology. 2007; 4:139. (In Russ.).
30. Avetisov E.S., Kovalevsky E.I., Khvatova A.V. Rukovodstvo po detskoi oftal’mologii [Guidelines for pediatric ophthalmology]. Moscow, Meditsina Publ.; 1987. 496 p. (In Russ.).
31. Egorov E.A., Astakhov Yu.S., Erichev V.P. Glaukoma. Natsional’noe rukovodstvo [Glaucoma. National leadership]. Moscow: GEOTARMedia 2015; 456 p. (In Russ.).
32. Weinreb R.N., Grajewski A., Papadopoulos M., Grigg G. et al. Childhood Glaucoma. The 9th Consensus Report of the World Glaucoma Association. Kugler Publication, Amsterdam, Netherlands; 2013; 270.
33. Somov E.E. Pervichnaya glaukoma [Primary Glaucoma]. St. Petersburg: Medizdat; 1992. 24 p. (In Russ.).
34. Katargina L.A., Tarasenkov A.O., Mazanova E.V. On the problem of the classification of congenital glaucoma. Russian Pediatric Ophthalmology. 2016; 11(4):179-183. (In Russ.). doi: 10.18821/1993-1859-2016-11-4-179-183
35. Thau A., Lloyd M., Freedman S., Beck A. et al. New classification system for pediatric glaucoma: implications for clinical care and a research registry. Curr Opin Ophthalmol. 2018; 29(5):385-394. doi: 10.1097/icu.0000000000000516
36. Chandler P.A., Grant W.M. Lectures on Glaucoma. Philadelphia: Lea &Febiger; 1965. 431.
37. Kim Y.J., Jeoung J.W., Kim M.K., Park K.H. Clinical features and outcome of corneal opacity associated with congenital glaucoma. BMC Ophthalmol. 2018; 18(1):190. doi: 10.1186/s12886-018-0865-4
38. Patil B., Tandon R., Sharma N., Verma M. et al. Corneal changes in childhood glaucoma. Ophthalmology. 2015; 122(1):87-92. doi: 10.1016/j.ophtha.2014.07.029
39. Ely A.L., El-Dairi M.A., Freedman S.F. Cupping reversal in pediatric glaucoma — evaluation of the retinal nerve fiber layer and visual field. Am J Ophthalmol. 2014; 158(5):905-915. https://doi.org/10.1016/j.ajo.2014.07.030
40. Jones L., Sung V., Lascaratos G., Nagi H. et al. Intraocular pressures after ketamine and sevoflurane in children with glaucoma undergoing examination under anaesthesia. Br J Ophthalmol. 2010; 94(1):33-35. doi: 10.1136/bjo.2008.148122
41. Aznabayev M.S., Zaydullin I.S. Changes in the parameters of the eyeball in the first year of life in children. Vestn oftalmol. 1990; 106(4):63-64. (In Russ.).
42. Khamroev Yu.A., Buzrukov B.T. Comparative analysis of the size of the anterior-posterior axes of the eyes with congenital glaucoma and healthy eyes in the age aspect. RMJ Clinical Ophthalmology. 2013; 1:17. (In Russ.).
43. Kuleshova O.N., Zaidman A.M., Sadovaya T.N., Luksha E.B. The role of undifferentiated connective tissue dysplasia in the development of spinal pathology, combined with juvenile glaucoma and myopia. Spinal surgery. 2008; 1:80-85. (In Russ.). doi: 10.14531/ss2008.1.80-85
44. Kuleshova O.N., Dikovskaya M.A., Zaidman A.M., Luksha E.B. Hereditary connective tissue disorders as predictors of the development of primary juvenile glaucoma. Ophthalmosurgery. 2012; 4:52-55. (In Russ.).
45. Moore D.B., Tomkins O., Ben-Zion I. A review of primary congenital glaucoma in the developing world. Surv Ophthalmol. 2013; 58(3):278-285. doi: 10.1016/j.survophthal.2012.11.003
46. Khvatova A.V., Yakovlev A.A., Teplinskaya L.E. Zritel’nye funktsii i ikh korrektsiya u detei. Vrozhdennaya glaukoma: sovremennyi vzglyad na patogenez i lechenie [Visual functions and their correction in children. Congenital glaucoma: a modern look at the pathogenesis and treatment]. Moscow, Meditsina Publ.; 2005: 319-344.
47. Zagora S.L., Funnell C.L., Martin F.J., Smith G.E. et al. Primary congenital glaucoma outcomes: lessons from 23 years of followup. Am J Ophthalmol. 2015; 159(4):788-796. doi: 10.1016/j.ajo.2015.01.019
48. Takhchidi Kh.P., Kuleshova O.N., Dikovskaya M.A. Features of diagnosis and treatment of primary juvenile glaucoma. Ophthalmosurgery. 2008; 3:8-11. (In Russ.).
49. Kuleshova O.N., Nepomnyashchikh G.I., Aidagulova S.V. Analysis of morphological changes of yukstacanalicular tissue and sclera on operating material in primary juvenile and open-angle glaucoma. Ophthalmosurgery. 2008; 3:12-15. (In Russ.).
50. Giangiacomo A., Beck A. Pediatric glaucoma: review of recent literature. Curr Opin Ophthalmol. 2017; 28(2):199-203. doi: 10.1097/ICU.0000000000000349.
51. Erichev V.P., Filippova O.M. Refractive peculiarities in patients with combined pathology: glaucoma, cataract and myopia. RMJ Clinical Ophthalmology. 2003; 4(2):42-44. (In Russ.).
52. Uva M.G., Avitabile T., Reibaldi M., Bucolo C. et al. Long-term efficacy of latanoprost in primary congenital glaucoma. Eye. 2014; 28(1):53-57. doi:10.1038/eye.2013.232
53. Terraciano A.J., Sidoti P.A. Management of refractory glaucoma in childhood. Curr Opin Ophthalmol. 2002; 13(2):97-102. doi: 10.1097/00055735-200204000-00008
54. Tanimoto S.A., Brandt J.D. Options in pediatric glaucoma after angle surgery has failed. Curr Opin Ophthalmol. 2006; 17(2):132-137. doi: 10.1097/01.icu.0000193091.60185.27
55. Tung I., Marcus I., Thiamthat W., Freedman S.F. Second glaucoma drainage devices in refractory pediatric glaucoma: failure by fibrovascular ingrowth. Am J Ophthalmol. 2014; 158:113-117. doi: 10.1016/j.ajo.2014.03.017
56. Papadopoulos M., Edmunds B., Fenerty C., Khaw P.T. Childhood glaucoma surgery in the 21st century. Eye. 2014; 28(8):931-943. doi: 10.1038/eye.2014.140
57. Khaw P.T. What is the best primary surgical treatment for infantile glauсoma. Br J Ophthalmol. 1996; 80(6):495-496. doi: 10.1136/bjo.80.6.495
58. O’Malley, Schotthoefer E., Yanovitch T.L., Freedman S.F. Aqueous drainage device surgery in refractory pediatric glaucomas: I. Longterm outcomes. J Am Assoc Pediatric Ophthalmol Strabismus. 2008; 12:33-39. doi: 10.1016/j.jaapos.2007.07.002
59. Barkan O. Goniotomy for the relief of congenital glaucoma. Br J Ophthalmol. 1948; 32:701-728. doi: 10.1136/bjo.32.9.701
60. Barkan O. Technic of goniotomy for congenital glaucoma. Arch Ophthalmol. 1949; 41:65-82. doi: 10.1001/archopht.1949.00900040068008
61. Huang J.L., Huang J.J., Zhong Y.M., Guo X.X. et al. Surgical outcomes of trabeculotomy in newborns with primary congenital glaucoma. Chin Med J. 2016; 129:2178-2183. doi: 10.4103/0366-6999.189925
62. Bayoumi N.H. Deep sclerectomy in pediatric glaucoma filtering surgery. Eye. 2012; 26:1548-1553. doi: 10.1038/eye.2012.215
63. Sood D., Rathore A., Sood I., Singh G. et al. Long-term outcome of combined trabeculotomy-trabeculectomy by a single surgeon in patients with primary congenital glaucoma. Eye. 2018; 32(2):426-432. doi: 10.1038/eye.2017.207
64. Al-Hazmi A., Awad A., Zwaan J., Al-Mesfer S.A. et al. Correlation between surgical success rate and severity of congenital glaucoma. Br J Ophthalmol. 2005; 89:449-453. doi: 10.1136/bjo.2004.047761
65. Chen T.C., Chen P.P., Francis B.A., Junk A.K. et al. Pediatric glaucoma surgery: a report by the American Academy Of Ophthalmology. Ophthalmology. 2014; 121(11):2107-2115. doi: 10.1016/j.ophtha.2014.05.010.
66. Temkar S., Gupta S., Sihota R., Sharma R. et al Illuminated microcatheter circumferential trabeculotomy versus combined trabeculotomy- trabeculectomy for primary congenital glaucoma: a randomized controlled trial. Am J Ophthalmol. 2015; 159(3): 490-497. doi: 10.1016/j.ajo.2014.12.001
67. Grehn F. New horizons in congenital glaucoma surgery. Acta Ophthalmol. 2018; 96(1):7-8. doi: 10.1111/aos.13589
68. Toshev A.P., Much M.M., Klink T., Pfeiffer N. et al. Catheter-assisted 360-degree trabeculotomy for congenital glaucoma. J Glaucoma. 2018; 27(7):572-577. doi: 10.1097/ijg.0000000000000966
69. Ishida K., Mandal A.K., Netland P.A. Glaucoma drainage implants in pediatric patients. Ophthalmol Clin North Am. 2005; 18(3):431-442. doi: 10.1016/j.ohc.2005.05.009
70. Al-Omairi A.M., Al Ameri A.H., Al-Shahwan S., Khan A.O. et al. Outcomes of Ahmed glaucoma valve revision in pediatric glaucoma. Am J Ophthalmol. 2017; 183:141-146. doi: 10.1016/j.ajo.2017.09.015
71. Molteno A.C. Children with advanced glaucoma treated by draining implants. S Afr Arch Ophthalmol. 1973; 1:55.
72. Mandalos A., Tailor R., Parmar T., Sung V. The long-term outcomes of glaucoma drainage device in pediatric glaucoma. J Glaucoma. 2016; 25(3):189-195. doi: 10.1097/ijg.0000000000000164
73. Razeghinejad M.R., Kaffashan S., Nowroozzadeh M.H. Results of Ahmed glaucoma valve implantation in primary congenital glaucoma. J Pediatr Ophthalmol Strabismus. 2014; 18(6):590-595. doi: 10.1016/j.jaapos.2014.08.008
74. Bely Yu.A., Molotkova I.A., Erokhina Ye.V. Surgical aspects of implanting Ahmed drainage in children with congenital glaucoma. Prakticheskaja medicina. 2012; 59(2):9-12. (In Russ.).
75. Pakravan M., Esfandiari H., Yazdani S., Doozandeh A. et al. Clinical outcomes of Ahmed glaucoma valve implantation in pediatric glaucoma. Eur J Ophthalmol. 2018; doi: 10.1177/1120672118761332
76. Fu G.L., Alexander J.L., Saeedi O.J. Persistent corneal edema associated with subconjunctival 5-fluorouracil in an infant with primary congenital glaucoma. J Pediatric Ophthalmol Strabismus. 2016; 22(53):54-57. doi: 10.3928/01913913-20161003-01
77. Shields M.B. Cyclodestructive surgery for glaucoma: past, present and future. Trans Am Ophthalmol Soc. 1985; 83:285-303. PMCID: PMC1298702
78. Neely D.E., Plager D.A. Endocyclophotocoagulation for management of difficult pediatric glaucomas. J AAPOS. 2001; 5(4):221-229. doi: 10.1067/mpa.2001.116868
79. Aquino M.C., Barton K., Tan A.M., Sng C. et al. Micropulse versus continuous
80. wave transscleral diode cyclophotocoagulation in refractory glaucoma: a randomized exploratory study. Clin Exp Ophthalmol. 2015; 43(1):40-46. doi: 10.1111/ceo.12360.
81. Guo C., Wu Y., Xu L., Li M. et al. Evaluation of preoperative speed of progression and its association with surgical outcomes in primary congenital glaucoma patients: a retrospective study. BMC Ophthalmol. 2017; 17(1):170. doi: 10.1186/s12886-017-0565-5
82. Chan J.Yu.Y., Choy B.N.K., Alex L.K. Ng, Shum J. W.H. Review on the management of primary congenital glaucoma. J Curr Glaucoma Pract. 2015; 9(3):92–99. doi: 10.5005/jp-journals-10008-1192
83. Ben-Zion I., Tomkins O., Moore D.B., Helveston E.M. Surgical results in the management of advanced primary congenital glaucoma in a rural pediatric population. Ophthalmology. 2011; 118:231-235. doi: 10.1016/j.ophtha.2010.02.027
Review
For citations:
Lazareva A.K., Kuleshova O.N., Aidagulova S.V., Chernykh V.V. Congenital glaucoma: literature review. National Journal glaucoma. 2019;18(2):102-112. (In Russ.) https://doi.org/10.25700/NJG.2019.02.11