Diagnostic and therapeutic approaches to optic disc pit maculopathy in children
Medical Hypothesis, Discovery & Innovation in Optometry,
Vol. 2 No. 1 (2021),
16 June 2021
,
Page 24-35
https://doi.org/10.51329/mehdioptometry122
Abstract
Background: Optic disc pit (ODP) is a rare congenital defect of the optic disc that can lead to maculopathy and gradual visual impairment. This review summarizes our current knowledge on the diagnostic and therapeutic approaches to ODP maculopathy (ODP-M) in children.Methods: A thorough literature search was performed using the PubMed/MEDLINE database from 1960 to 2020. An additional search was conducted using Google Scholar for completeness.
Results: ODP-M is characterized by the accumulation of subretinal and/or intraretinal fluid. The exact pathogenetic mechanisms are not fully understood, and the origin of the fluid remains unknown. Although ODP-M is more likely to occur during the third or fourth decade of life, cases of children with serous retinal detachment have been recorded. Early diagnosis of ODP-M and prompt, appropriate management are crucial, particularly in patients of amblyogenic age. In adults, ODP-M may resolve spontaneously, but most cases require surgical intervention to prevent permanent loss of vision. However, the fact that ODP-M may spontaneously resolve in children cannot be ignored. Various surgical methods have been described, including pars plana vitrectomy (PPV) combined with various techniques, including laser photocoagulation, intravitreal gas injection, and macular buckling.
Conclusions: PPV remains the mainstay surgical approach for ODP-M. However, ODP-M may differ between children and adults. Children constitute a unique population of patients that require a different and probably more tailor-made approach. Detailed clinical examination, combined with a thorough analysis of retinal imaging, may improve our understanding of the background and pathophysiology of the disease and eventually provide us with new insights into the management of ODP-M in the pediatric population.
How to cite this article: Kalogeropoulos D, Asproudis I, Ch’ng SW, Mitra A, Sharma A, Katsikatsos K, Asproudis C, Kalogeropoulos C. Diagnostic and therapeutic approaches to optic disc pit maculopathy in children. Med Hypothesis Discov Innov Optom.2021 Spring; 2(1): 24-35. DOI: https://doi.org/10.51329/mehdioptometry122
- congenital anomalies
- optic disc pit
- optic disc pit maculopathy
- retinal imaging
- surgical treatment
- pars plana vitrectomy
References
Kalogeropoulos D, Ch’ng SW, Lee R, Elaraoud I, Purohit M, Felicida V, et al. Optic Disc Pit Maculopathy: A Review. Asia Pac J Ophthalmol (Phila). 2019;8(3):247-55.
Javitt JC, Spaeth GL, Katz LJ, Poryzees E, Addiego R. Acquired pits of the optic nerve. Increased prevalence in patients with low-tension glaucoma. Ophthalmology. 1990;97(8):1038-43; discussion 43-4. doi: 10.1016/s0161-6420(90)32466-1 pmid: 2402415
Ohno-Matsui K, Akiba M, Moriyama M, Shimada N, Ishibashi T, Tokoro T, et al. Acquired optic nerve and peripapillary pits in pathologic myopia. Ophthalmology. 2012;119(8):1685-92. doi: 10.1016/j.ophtha.2012.01.047 pmid: 22494632
Radius RL, Maumenee AE, Green WR. Pit-like changes of the optic nerve head in open-angle glaucoma. Br J Ophthalmol. 1978;62(6):389-93. doi: 10.1136/bjo.62.6.389 pmid: 666988
Healey PR, Mitchell P. The prevalence of optic disc pits and their relationship to glaucoma. J Glaucoma. 2008;17(1):11-4. doi: 10.1097/IJG.0b013e318133fc34 pmid: 18303377
Wang Y, Xu L, Jonas JB. Prevalence of congenital optic disc pits in adult Chinese: The Beijing Eye Study. Eur J Ophthalmol. 2006;16(6):863-4. doi: 10.1177/112067210601600613 pmid: 17191194
Radosova V, Krejcirova I, Autrata R, Zajdlikova B. Bilateral Optic Disc Pit with Maculopathy - the Case Report. Cesk Slov Oftalmol. 2019;75(2):86-90. doi: 10.31348/2019/2/5 pmid: 31537077
Rossi S, De Rosa G, D’Alterio FM, Orrico A, Banfi S, Testa F, et al. Intrafamilial heterogeneity of congenital optic disc pit maculopathy. Ophthalmic Genet. 2017;38(3):267-72. doi: 10.1080/13816810.2016.1188120 pmid: 27268460
Stefko ST, Campochiaro P, Wang P, Li Y, Zhu D, Traboulsi EI. Dominant inheritance of optic pits. Am J Ophthalmol. 1997;124(1):112-3. doi: 10.1016/s0002-9394(14)71656-3 pmid: 9222245
Slusher MM, Weaver RG, Jr., Greven CM, Mundorf TK, Cashwell LF. The spectrum of cavitary optic disc anomalies in a family. Ophthalmology. 1989;96(3):342-7. doi: 10.1016/s0161-6420(89)32886-7 pmid: 2710526
Kranenburg EW. Crater-like holes in the optic disc and central serous retinopathy. Arch Ophthalmol. 1960;64:912-24. doi: 10.1001/archopht.1960.01840010914013 pmid: 13753957
Sugar HS. An explanation for the acquired macular pathology associated with congenital pits of the optic disc. Am J Ophthalmol. 1964 May;57(833-5). pmid: 14167198
Sugar HS. Congenital pits in the optic disc and their equivalents (congenital colobomas and colobomalike excavations) associated with submacular fluid. Am J Ophthalmol. 1967 Feb;63(2):298-307. doi: 10.1016/0002-9394(67)91553-X pmid: 4959901
Gordon R, Chatfield RK. Pits in the optic disc associated with macular degeneration. Br J Ophthalmol. 1969;53(7):481-9. doi:10.1136/bjo.53.7.481 pmid: 5804034
Brodsky MC. Congenital optic disk anomalies. Surv Ophthalmology. 1994;39(89e112). doi: 10.1016/0039-6257(94)90155-4 pmid:7801227
Kalogeropoulos D, Ch’ng SW, Lee R, Elaraoud I, Felicida V, Purohit M, et al. Optic Disc Pit Maculopathy - Case Series, Clinical Approach, and Management. Middle East Afr J Ophthalmol. 2020;27(1):34-9. doi: 10.4103/meajo.MEAJO_181_19 pmid: 32549722
Georgalas I, Kouri A, Ladas I, Gotzaridis E. Optic disc pit maculopathy treated with vitrectomy, internal limiting membrane peeling, and air in a 5-year-old boy. Can J Ophthalmol. 2010;45(2):189-91. doi: 10.3129/i09-215 pmid: 20379320
Iftikhar M, Shah SMA, Goldberg MF. A Case of Optic Disc Pit Maculopathy Observed without Intervention for 6 Years. Ophthalmol Retina. 2019;3(2):195-7. doi: 10.1016/j.oret.2018.09.019 pmid: 31014772
Akca Bayar S, Sarigul Sezenoz A, Yaman Pinarci E, Yilmaz G. Spontaneous Regression of Optic Disc Pit Maculopathy in a Six-Year-Old Child. Turk J Ophthalmol. 2017;47(1):56-8. doi: 10.4274/tjo.57614 pmid: 28182177
Yuen CH, Kaye SB. Spontaneous resolution of serous maculopathy associated with optic disc pit in a child: a case report. J AAPOS. 2002;6(5):330-1. doi: 10.1067/mpa.2002.127921 pmid: 12381994
Uzel MM, Karacorlu M. Optic disk pits and optic disk pit maculopathy: A review. Surv Ophthalmol. 2019;64(5):595-607. doi: 10.1016/j.survophthal.2019.02.006 pmid: 30797884
Theodossiadis G. Evolution of congenital pit of the optic disk with macular detachment in photocoagulated and nonphotocoagulated eyes. Am J Ophthalmol. 1977;84(5):620-31. doi: 10.1016/0002-9394(77)90375-0 pmid: 930990
Theodossiadis GP, Theodossiadis PG, Ladas ID, Zafirakis PK, Kollia AC, Koutsandrea C, et al. Cyst formation in optic disc pit maculopathy. Doc Ophthalmol. 1999;97(3-4):329-35. doi: 10.1023/a:1002194324791 pmid: 10896347
Steel DHW, Suleman J, Murphy DC, Song A, Dodds S, Rees J. Optic Disc Pit Maculopathy: A Two-Year Nationwide Prospective Population-based Study. Ophthalmology. 2018;125(11):1757-64. doi: 10.1016/j.ophtha.2018.05.009 pmid: 29887331
Rii T, Hirakata A, Inoue M. Comparative findings in childhood-onset versus adult-onset optic disc pit maculopathy. Acta Ophthalmol. 2013;91(5):429-33. doi: 10.1111/j.1755-3768.2012.02429.x pmid: 22551388
Lincoff H, Yannuzzi L, Singerman L, Kreissig I, Fisher Y. Improvement in visual function after displacement of the retinal elevations emanating from optic pits. Arch Ophthalmol. 1993;111(8):1071-9. doi: 10.1001/archopht.1993.01090080067020 pmid: 8352690
Theodossiadis GP, Chatziralli IP, Theodossiadis PG. Macular buckling in optic disc pit maculopathy in association with the origin of macular elevation: 13-year mean postoperative results. Eur J Ophthalmol. 2015;25(3):241-8. doi: 10.5301/ejo.5000553 pmid:25588593
Theodossiadis GP. Treatment of maculopathy associated with optic disk pit by sponge explant. Am J Ophthalmol. 1996;121(6):630-7. doi: 10.1016/s0002-9394(14)70628-2 pmid: 8644805
Theodossiadis GP, Theodossiadis PG. The macular buckling technique in the treatment of optic disk pit maculopathy. Semin Ophthalmol. 2000;15(2):108-15. doi: 10.3109/08820530009040001 pmid: 11309743
Theodossiadis GP, Theodossiadis PG. Optical coherence tomography in optic disk pit maculopathy treated by the macular buckling procedure. Am J Ophthalmol. 2001;132(2):184-90. doi: 10.1016/s0002-9394(01)00997-7 pmid: 11476677
Brockhurst RJ. Optic pits and posterior retinal detachment. Trans Am Ophthalmol Soc. 1975;73:264-91. pmid: 1246808
Theodossiadis GP, Panopoulos M, Kollia AK, Georgopoulos G. Long-term study of patients with congenital pit of the optic nerve and persistent macular detachment. Acta Ophthalmol (Copenh). 1992;70(4):495-505. doi: 10.1111/j.1755-3768.1992.tb02120.x pmid:1414295
Brown GC, Shields JA, Goldberg RE. Congenital pits of the optic nerve head. II. Clinical studies in humans. Ophthalmology. 1980;87(1):51-65. doi: 10.1016/s0161-6420(80)35278-0 pmid: 7375086
Chatziralli I, Theodossiadis P, Theodossiadis GP. Optic disk pit maculopathy: current management strategies. Clin Ophthalmol. 2018;12:1417-22. doi: 10.2147/OPTH.S153711 pmid: 30127591
Asensio Sanchez VM, Corral Azor A, Bartolome Aragon A, De Paz Garcia M. [Renal-coloboma syndrome]. Arch Soc Esp Oftalmol. 2002;77(11):635-8. pmid: 12410411
Caprioli J, Lesser RL. Basal encephalocele and morning glory syndrome. Br J Ophthalmol. 1983;67(6):349-51. doi: 10.1136/bjo.67.6.349 pmid: 6849854
Fea A, Grosso A, Rabbione M, Grignolo F. Alagille syndrome and optic pit. Graefes Arch Clin Exp Ophthalmol. 2007;245(2):315-7. doi: 10.1007/s00417-006-0340-4 pmid: 16673137
Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome. Semin Ophthalmol. 2007;22(4):205-10. doi:10.1080/08820530701745108 pmid: 18097983
Pollock JA, Newton TH, Hoyt WF. Transsphenoidal and transethmoidal encephaloceles. A review of clinical and roentgen features in 8 cases. Radiology. 1968;90(3):442-53. doi: 10.1148/90.3.442 pmid: 4966739
Jain N, Johnson MW. Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. Am J Ophthalmol. 2014;158(3):423-35. doi: 10.1016/j.ajo.2014.06.001 pmid: 24932988
Georgalas I, Ladas I, Georgopoulos G, Petrou P. Optic disc pit: a review. Graefes Arch Clin Exp Ophthalmol. 2011;249(8):1113-22. doi: 10.1007/s00417-011-1698-5 pmid: 21638030
Lincoff H, Lopez R, Kreissig I, Yannuzzi L, Cox M, Burton T. Retinoschisis associated with optic nerve pits. 1988. Retina. 2012;32 Suppl 1:61-7. doi: 10.1097/iae.0b013e31823f9abb pmid: 22451950
Krivoy D, Gentile R, Liebmann JM, Stegman Z, Rosen R, Walsh JB, et al. Imaging congenital optic disc pits and associated maculopathy using optical coherence tomography. Arch Ophthalmol. 1996;114(2):165-70. doi: 10.1001/archopht.1996.01100130159008 pmid: 8573019
Rutledge BK, Puliafito CA, Duker JS, Hee MR, Cox MS. Optical coherence tomography of macular lesions associated with optic nerve head pits. Ophthalmology. 1996;103(7):1047-53. doi: 10.1016/s0161-6420(96)30568-x pmid: 8684793
Roy R, Waanbah AD, Mathur G, Raman R, Sharma T. Optical coherence tomography characteristics in eyes with optic pit maculopathy. Retina. 2013;33(4):771-5. doi: 10.1097/IAE.0b013e31826f5234 pmid: 23423154
Theodossiadis G, Theodossiadis P, Chatziralli I. Thoughts and Challenges for the Current Treatment of Optic Disc Pit Maculopathy. Semin Ophthalmol. 2020;35(4):232-6. doi: 10.1080/08820538.2020.1809684 pmid: 32809892
Jeng-Miller KW, Cestari DM, Gaier ED. Congenital anomalies of the optic disc: insights from optical coherence tomography imaging. Curr Opin Ophthalmol. 2017;28(6):579-86. doi: 10.1097/ICU.0000000000000425 pmid: 28817389
Steel DH, Williamson TH, Laidlaw DA, Sharma P, Matthews C, Rees J, et al. Extent and Location of Intraretinal and Subretinal Fluid as Prognostic Factors for the Outcome of Patients with Optic Disk Pit Maculopathy. Retina. 2016;36(1):110-8. doi: 10.1097/IAE.0000000000000658 pmid: 26166800
Ooto S, Mittra RA, Ridley ME, Spaide RF. Vitrectomy with inner retinal fenestration for optic disc pit maculopathy. Ophthalmology. 2014;121(9):1727-33. doi: 10.1016/j.ophtha.2014.04.006 pmid: 24837239
Rosenthal G, Bartz-Schmidt KU, Walter P, Heimann K. Autologous platelet treatment for optic disc pit associated with persistent macular detachment. Graefes Arch Clin Exp Ophthalmol. 1998;236(2):151-3. doi: 10.1007/s004170050056 pmid: 9498127
Ozdek S, Ozdemir HB. A New Technique with Autologous Fibrin for the Treatment of Persistent Optic Pit Maculopathy. Retin Cases Brief Rep. 2017;11(1):75-8. doi: 10.1097/ICB.0000000000000293 pmid: 26982208
Todorich B, Sharma S, Vajzovic L. Successful Repair of Recurrent Optic Disk Pit Maculopathy with Autologous Platelet Rich Plasma: Report of a Surgical Technique. Retin Cases Brief Rep. 2017;11(1):15-7. doi: 10.1097/ICB.0000000000000276 pmid: 26829447
Inoue M, Shinoda K, Ishida S. Vitrectomy combined with glial tissue removal at the optic pit in a patient with optic disc pit maculopathy: a case report. J Med Case Rep. 2008;2:103. doi: 10.1186/1752-1947-2-103 pmid: 18394198
Kalogeropoulos D, Kalogeropoulos C, Moschos MM, Sung V. The Management of Uveitic Glaucoma in Children. Turk J Ophthalmol. 2019;49(5):283-93. doi: 10.4274/tjo.galenos.2019.36589 pmid: 31650812
Theodossiadis PG, Grigoropoulos VG, Emfietzoglou J, Theodossiadis GP. Vitreous findings in optic disc pit maculopathy based on optical coherence tomography. Graefes Arch Clin Exp Ophthalmol. 2007;245(9):1311-8. doi: 10.1007/s00417-007-0534-4 pmid:17285337
Shukla D, Kalliath J, Tandon M, Vijayakumar B. Vitrectomy for optic disk pit with macular schisis and outer retinal dehiscence. Retina. 2012;32(7):1337-42. doi: 10.1097/IAE.0b013e318235d8fc pmid: 22481474
Rizzo S, Belting C, Genovesi-Ebert F, Di Bartolo E, Cresti F, Cinelli L, et al. Optic disc pit maculopathy: the value of small-gauge vitrectomy, peeling, laser treatment, and gas tamponade. Eur J Ophthalmol. 2012;22(4):620-5. doi: 10.5301/ejo.5000083 pmid: 22081669
Maertz J, Mohler KJ, Kolb JP, Kein T, Neubauer A, Kampik A, et al. Intrapapillary proliferation in optic disk pits: Clinical findings and time-related changes. Retina. 2017;37(5):906-14. doi: 10.1097/IAE.0000000000001260 pmid: 27617535
Yokoi T, Nakayama Y, Nishina S, Azuma N. Abnormal traction of the vitreous detected by swept-source optical coherence tomography is related to the maculopathy associated with optic disc pits. Graefes Arch Clin Exp Ophthalmol. 2016;254(4):675-82. doi: 10.1007/s00417-015-3114-z pmid: 26245337
Rayat JS, Rudnisky CJ, Waite C, Huang P, Sheidow TG, Kherani A, et al. Long-Term Outcomes for Optic Disk Pit Maculopathy after Vitrectomy. Retina. 2015;35(10):2011-7. doi: 10.1097/IAE.0000000000000576 pmid: 25923958
Lei L, Li T, Ding X, Ma W, Zhu X, Atik A, et al. Gas tamponade combined with laser photocoagulation therapy for congenital optic disc pit maculopathy. Eye (Lond). 2015;29(1):106-14. doi: 10.1038/eye.2014.245 pmid: 25323852
Hiraoka T, Inoue M, Ninomiya Y, Hirakata A. Infrared and fundus autofluorescence imaging in eyes with optic disc pit maculopathy. Clin Exp Ophthalmol. 2010;38(7):669-77. doi: 10.1111/j.1442-9071.2010.02311.x pmid: 20456431
Benatti E, Garoli E, Viola F. Spontaneous Resolution of Optic Disk Pit Maculopathy in a Child after a Six-Year Follow-Up. Retin Cases Brief Rep. 2021;15(4):453-6. doi: 10.1097/ICB.0000000000000815 pmid: 30086106
Ozkaya A, Alkin Z, Taylan AT, Demirok A. Ocular imaging findings of bilateral optic disc pit in a child. Nepal J Ophthalmol. 2013;5(2):258-61. doi: 10.3126/nepjoph.v5i2.8739 pmid: 24172565
Brodsky MC. Congenital optic pit with serous maculopathy in childhood. J AAPOS. 2003;7(2):150; author reply doi: 10.1016/s1091-8531(03)00008-9 pmid: 12756987
Bloch E, Georgiadis O, Lukic M, da Cruz L. Optic Disc Pit Maculopathy: New Perspectives on the Natural History. Am J Ophthalmol. 2019;207:159-69. doi: 10.1016/j.ajo.2019.05.010 pmid: 31095956
Ková?ová M, Meliška M, Kalvodová B. OCT Findings and Long-term Follow-up Results of Vitrectomy in Patients with Optic Disc Pit and Associated Maculopathy. Cesk Slov Oftalmol. 2018 Spring;73(5-6):171-7. English. pmid: 30541296
Mete A, Turkcuoglu P, Kimyon S, Gungor K. The results of 25-gauge vitreoretinal surgery for optic disc pit-associated maculopathy: a report of three cases and mini-review of the literature. Int Ophthalmol. 2017;37(4):1057-63. doi: 10.1007/s10792-016-0336-y pmid:27614461
Akiyama H, Shimoda Y, Fukuchi M, Kashima T, Mayuzumi H, Shinohara Y, et al. Intravitreal gas injection without vitrectomy for macular detachment associated with an optic disk pit. Retina. 2014;34(2):222-7. doi: 10.1097/IAE.0b013e3182993d93 pmid: 23873162
Sanghi G, Padhi TR, Warkad VU, Vazirani J, Gupta V, Dogra MR, et al. Optical coherence tomography findings and retinal changes after vitrectomy for optic disc pit maculopathy. Indian J Ophthalmol. 2014;62(3):287-90. doi: 10.4103/0301-4738.111191 pmid: 23619493
Marticorena J, Gomez-Ulla F, Romano MR, Fernandez M. Dye-guided retinal laser and internal drainage for optic pit maculopathy. Graefes Arch Clin Exp Ophthalmol. 2013;251(1):381-2. doi: 10.1007/s00417-011-1828-0 pmid: 21964822
Hirakata A, Inoue M, Hiraoka T, McCuen BW, 2nd. Vitrectomy without laser treatment or gas tamponade for macular detachment associated with an optic disc pit. Ophthalmology. 2012;119(4):810-8. doi: 10.1016/j.ophtha.2011.09.026 pmid: 22218142
Imamura Y, Zweifel SA, Fujiwara T, Freund KB, Spaide RF. High-resolution optical coherence tomography findings in optic pit maculopathy. Retina. 2010;30(7):1104-12. doi: 10.1097/IAE.0b013e3181d87ecb pmid: 20523264
Chiu YT, Chen HY, Tsai YY, Lin JM, Chiang CC. Stratus optical coherence tomography for evaluating optic disc pits associated with maculopathy before and after vitrectomy: two case reports. Kaohsiung J Med Sci. 2006;22(5):229-34. doi: 10.1016/S1607-551X(09)70241-4 pmid: 16793558
Spaide RF, Fisher Y, Ober M, Stoller G. Surgical hypothesis: inner retinal fenestration as a treatment for optic disc pit maculopathy. Retina. 2006;26(1):89-91. doi: 10.1097/00006982-200601000-00014 pmid: 16395144
Ishikawa K, Terasaki H, Mori M, Sugita K, Miyake Y. Optical coherence tomography before and after vitrectomy with internal limiting membrane removal in a child with optic disc pit maculopathy. Jpn J Ophthalmol. 2005;49(5):411-3. doi: 10.1007/s10384-004-0225-1 pmid: 16187043
Hirakata A, Hida T, Wakabayashi T, Fukuda M. Unusual posterior hyaloid strand in a young child with optic disc pit maculopathy: intraoperative and histopathological findings. Jpn J Ophthalmol. 2005;49(3):264-6. doi: 10.1007/s10384-004-0185-5 pmid: 15944837
Bakri SJ, Beer PM. Vitreoretinal surgery for optic pit associated serous macular detachment: a discussion of two cases. Int Ophthalmol. 2004;25(3):143-6. doi: 10.1007/s10792-004-5197-0 pmid: 15847312
Meyer CH, Rodrigues EB. Optic disc pit maculopathy after blunt ocular trauma. Eur J Ophthalmol. 2004;14(1):71-3. doi: 10.1177/112067210401400114 pmid: 15005591
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