Challenges in Optic Disc Pit Maculopathy Treatment

Many techniques have been described; choose the best one for the individual patient.

BY BARBARA PAROLINI, MD; AND MICHELE PALMIERI, MD

ptic disc pit (ODP) is a rare congenital abnormality ODP MACULOPATHY of the optic nerve head, first described by Wiethe in ODP is usually asymptomatic, but a percentage of affected 1882.1 ODP usually appears as a grayish-whitish, round patients (25%-75% depending on the report) may develop a or oval depression of the optic disc (Figure 1A), and it macular serous detachment or a retinoschisis-like maculopa- may have different levels of severity. It is a spectrum of thy due to the presence, respectively, of subretinal or intra- Ocongenital cavitary anomalies of the optic disc, ranging from retinal fluid.3,6,9 This condition, known as ODP maculopathy the more common optic pit to the so-called morning glory (ODPM), causes visual impairment, especially in long-stand- syndrome (Figure 1B) to coloboma not only of the optic ing cases, in which lamellar or full-thickness macular holes nerve but also of the choroid (Figure 1C). It is also found in and retinal pigment epithelium atrophy may appear.10-12 the papillorenal syndrome determined by a mutation of the The exact mechanism of the pathophysiology of ODPM PAX2 gene. and the origin of the fluid remain unclear. It has been pro- ODP is bilateral in 15% of cases (Figure 2) and occurs posed that vitreous or cerebrospinal fluid (CSF) may be the equally in men and women with an estimated incidence of origin of the fluid responsible for ODPM.13-15 In the first case, 1 to 2 per 10,000 people.2-5 The most frequent location is in it is posited that the vitreous exerts traction on the macula the temporal segment of the disc, but ODP has also been and optic disc, leading to negative pressure and the subse- described on the nasal side.3,6 quent entrance of fluid through the ODP into the submacu- Histopathologically, ODP appears as a herniation of dys- lar space.14,15 In the second case, the supposition is that the plastic retinal tissue into a collagen-rich excavation that can CSF flows through direct communication between the mac- extend into the subarachnoid space through a defect in the ular subretinal space and subarachnoid space through the lamina cribrosa (Figure 3).7 Studies of ODP using OCT have ODP defect.10,16,17 This hypothesis was supported by Ohno- revealed connections between the subretinal and intraretinal Matsui et al,18 who imaged the subarachnoid space just pos- space, the perineural space, and the vitreous cavity (Figure 4).8 terior to the bottom of the ODP using swept-source OCT.

A B C

Figure 1. ODP usually appears as a grayish-whitish, round or oval depression of the optic disc (A). ODP ranges from optic pit to so-called morning glory syndrome (B) to coloboma of the optic nerve and choroid (C).

JULY/AUGUST 2019 | RETINA TODAY 33 - 25 - - 23 - - - in 21

Gas 19,20

but relapses but

21,26,27 22 and removal of glial tis glial of removal and 24 RETINA TODAY RETINA ON THE ROAD a lecture the This article is adapted from Duke Advanced author presented at the in April. The Vitreous Surgery Course April 17-18, 2020 meeting will be held Visit 2020, in Durham, North Carolina. MedConfs.com for details. Another therapeutic approach toapproach therapeutic Another In most cases, the fluid follows thefollows fluid the cases, most In havealternatives treatment Several Moreover, in eyes with ODPM,with eyes in Moreover, retinotomy, ODP. the of wall temporal the at sue displacementpneumatic is ODPM alonetamponade gas intravitreal with laser. with combined or posteriora induce may tamponade reduc thereby detachment, vitreous whereastraction, vitreomacular ing the subretinal space was confirmedwas space subretinal the siliconeand gas of observation the by and subretinal the into migration oil afterrespectively, space, intracranial (PPV). vitrectomy plana pars al, et Lincoff by described pattern acreates first ODP the from fluid which retinainner the of separation schisis-like space,subretinal the reaches then and neuroepithelial macular a creating reabsorp Spontaneous detachment. of25% to up in possible is fluid of tion Gass, to according cases progressivea to leading frequent, are structuresmacular the of deterioration oftrend recurrent This visualloss. and pulsat the by explained be may ODPM pressure. intracranial of dynamics ing TREATMENT OF ODPM includingODPM, for proposed been pho laser management, conservative sur buckling macular tocoagulation, thicknesspartial tamponade, gas gery, communication between the vitreousthe between communication andspace, subarachnoid the cavity, B | JULY/AUGUST 2019 | JULY/AUGUST

A Figure 4. OCT imaging in ODP can reveal connections between the subretinal and intraretinal space, the perineural Figure 4. OCT imaging in ODP can reveal connections between the subretinal and intraretinal space, the perineural space, and the vitreous cavity. Figure 3. ODP appears as a herniation of dysplastic retinal tissue into a collagen-rich excavation that can extend into Figure 3. ODP appears as a herniation of dysplastic retinal tissue into a collagen-rich excavation that can extend into the subarachnoid space through a defect in the lamina cribrosa. Figure 2. ODP is bilateral in 15% of cases. Retinography of the right (A) and left (B) eye of an 8-year-old boy with of an 8-year-old boy with of cases. Retinography of the right (A) and left (B) eye Figure 2. ODP is bilateral in 15% area of the central inferior and nasal choroid. bilateral coloboma of the optic nerve and involving a large RETINA TODAY

34 RARE DISEASES INHERITED AND s - - - - or

46 The 50,51 an ILM an 30,41,52-54 42-44 Additionally, the fibrin seal fibrin the 45 In these cases, these In 47-49 41 This case presented several chal several presented case This Macular buckling is another is buckling Macular considered is buckling Macular report case the share we Here, Several authors have also described also have authors Several to technique this applied have We explanation regarding the efficacy the regarding explanation needed. is PPV of inferior iris as an associated finding associated an as iris inferior first patient The 5). and 2 (Figures in detachment macular a developed developed quickly which eye, left the detachment retinal complete a into ODP the from coming fluid by caused hole. macular suspected a and macular the that including lenges, of subretinal fluid might take a few a take might fluid subretinal of the which in cases in even months, post on pit the in visible is flap ILM 5). (Figure OCT operative ODPM. of treatment for alternative described first al et Theodossiadis suc a reported and technique this 85%. about of rate cess macular the pushes buckle macular chamber, vitreous the toward surface and fluid of entrance the obstructing traction. vitreous alleviating and technique difficult a many by applied. widely not is reason this for many have should surgeons However, they that so arsenals their in weapons the on based one best the choose can patient. individual the of needs CASE REPORT bilateral with boy 8-year-old an of the and nerve optic the of coloboma the as well as choroid, inferior central the key step for a successful surgery successful a for step key the pit. the of sealing the maybe materials, with ODP the stuffing flap, ILM an including glue, fibrin and flap Johnson), & (Johnson Evicel ant fibrin. autologous technique flap ILM inverted an using the including disc, optic the cover to area, foveal the excluding but ODP results. promising shown has when years 5 past the in patients five not did displacement pneumatic Reabsorption pathology. the resolve - - - -

27-42 B If the vitreous cavity is the source the is cavity vitreous the If Inducing a posterior vitreous posterior a Inducing of the subretinal fluid. The application The fluid. subretinal the of to helps pit the of edge the at laser of communica the obstructing it, seal retina. the and ODP the between tion not has laser for need the However, demonstrated. definitively been role the then ODPM, in fluid of treat effective an as PPV by played other the On comprehensible. is ment originates fluid subretinal the if hand, space,further subarachnoid the from (ILM) peeling. Multiple studies have studies Multiple peeling. (ILM) rate success anatomic high reported out functional good and (50%-95%) improve VA with PPV, with comes cases. of 50% than more in ment the relieve can PPV with detachment on vitreous the by exerted traction absorption the facilitating macula, the - - - This simple andsimple This 28

26,28 either alone or com or alone either 26,29,30 | JULY/AUGUST 2019 | JULY/AUGUST

AT A GLANCE ODP maculopathy can cause visual impairment, especially in long-standing long-standing visual impairment, especially in cause ODP maculopathy can ODP in a repair of an In a case report, the author describes a challenging Optic disc pit (ODP) is a spectrum of congenital cavitary anomalies of the cavitary anomalies of the Optic disc pit (ODP) is a spectrum of congenital cases. young patient. optic disc, ranging from optic pit to morning glory syndrome to coloboma syndrome to coloboma pit to morning glory optic disc, ranging from optic with to 75% of patients also of the choroid. Up but optic nerve not only of the ODP may develop ODP maculopathy.    A Today, PPV is often the treatment the often is PPV Today, We have tried this technique in technique this tried have We Figure 5. OCT of the left eye of the patient depicted in Figure 2. The horizontal scan of the OCT (A) shows the depth the OCT (A) shows the depth the patient depicted in Figure 2. The horizontal scan of Figure 5. OCT of the left eye of not possible in this particular of the fovea can be challenging in cases of ODP and is of the coloboma. Identification of subretinal fluid is visible. The color photo (B) case because it is located inside the coloboma. A mild amount in the extramacular temporal areas shown below. shows the extensive coloboma and the level of the OCT scan s s s bined with gas tamponade and/or tamponade gas with bined or with and photocoagulation laser membrane limiting internal without first. It can then be repeated years repeated be then can It first. leav relapse, of event the in later this if vitrectomy of option the ing fails. treatment choice, of 15 eyes with good initial outcomes. In outcomes. initial good with eyes 15 observed have we eyes these of some young patients in However, relapse. a it consider still we years 20 than er technique this apply to preferable laser photocoagulation contributesphotocoagulation laser pit. the of sealing to beenhas technique invasive minimally rate,success good a have to reported isinjection one than more although necessary. often RETINA TODAY

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[email protected] Financial disclosure: None Director, Vitreoretinal Service, Eyecare Clinic, [email protected] Financial disclosure: None Director, Vitreoretinal Service, Eyecare Clinic, Director, Vitreoretinal Service, Eyecare Clinic, Brescia, Italy Brescia, Italy     Imaging Retina treatment or gas tamponade for macular detachment associated with an optic for macular detachment associated treatment or gas tamponade disc pit. without laser PM, Bendo E, Pazzaglia A. Vitrectomy 37. Talli PM, Fantaguzzi disc pit: long- serous detachment associated with optic treatment for macular term outcomes. gauge vitrectomy for optic disc 38. Kumar A, Gogia V, Nagpal R, et al. Minimal pit maculopathy: our results. et al. Optic disc pit maculopathy: the 39. Rizzo S, Belting C, Genovesi-Ebert F, laser treatment, and gas tamponade. value of small-gauge vitrectomy, peeling, Eur J Ophthalmol D, et al. Long-term changes of 40. Chatziralli I, Theodossiadis G, Panagiotidis in optic disc pit maculopathy: macular thickness after pars plana vitrectomy study. a spectral-domain optical coherence tomography 2017;32(3):302-308. PG. Macular buckling in 41. Theodossiadis GP, Chatziralli IP, Theodossiadis with the origin of macular elevation: optic disc pit maculopathy in association 13-year mean postoperative results. S, et al. Efficacy of internal limiting 42. Pastor-Idoate S, Gomez-Resa M, Karam for macular detachment associated membrane flap techniques with vitrectomy ahead of print March 22, 2019]. with an optic disc pit [published online Ophthalmologica 43. Caporossi T, Finocchio L, Barca F, et al. 27-gauge via pars plana vitrectomy with autologous ILM transplantation for optic pit disc maculopathy. mic 44. Roy R, Saurabh K, Thomas NR, Das K. Surgical management of optic disc pit maculopathy with a fovea sparing internal limiting membrane flap. Ophthalmol n n MD BARBARA PAROLINI, n n n membrane abrasion for optic disc pit maculopathy. 46. de Oliveira PRC, Berger AR, Chow DR. Use of Evicel fibrin sealant in optic disc pit-associated macular detachment. Retina 47. 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 48. Ozdek S, Ozdemir HB. A new technique with autologous fibrin for the treatment of persistent optic pit maculopathy. 2017;11(1):75-78. 49. Todorich B, Sharma S, Vajzovic L. Successful repair of recurrent optic disk pit maculopathy with autologous platelet rich plasma: report of a surgical technique. 50. Hara R, Tsukahara Y, Simoyama T, Mori S. Refined internal limiting membrane inverted flap technique for intractable macular detachment with optic disc pit. 51. Sborgia G, Recchimurzo N, Sborgia L, et al. Inverted internal limiting membrane-flap technique for optic disk pit maculopathy: morphologic and functional analysis [published online ahead of print February 22, 2018]. Cases Brief Rep 52. Theodossiadis GP, Theodossiadis PG. The macular buckling procedure in the treatment of retinal detachment in highly myopic eyes with macular hole and posterior staphyloma: mean follow-up of 15 years. 53. Theodossiadis GP, Theodossiadis PG. Optical coherence tomography in optic disk pit maculopathy treated by the macular buckling procedure. Ophthalmol 54. Georgopoulos GT, Theodossiadis PG, Kollia AC, et al. Visual field improve ment after treatment of optic disk pit maculopathy with the macular buckling procedure. MD PALMIERI, MICHELE n 45. Almeida DRP, Chin EK, Arjmand P, et al. Fibrin glue and internal limiting

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Arch Ophthalmol J Med Case Rep 35. Georgalas I, Petrou P, Koutsandrea C, et al. Optic disc pit maculopathy treated with vitrectomy, internal limiting membrane peeling, and gas tampon ade: a report of two cases. 36. Hirakata A, Inoue M, Hiraoka T, McCuen BW. Vitrectomy without laser 2014;34(2):222-227. 29. Annesley W, Brown G, Bolling J, Goldberg R, Fischer D. Treatment of retinal detachment with congenital optic pit by krypton laser photocoagulation. Graefes Arch Clin Exp Ophthalmol 30. Theodossiadis GP. Treatment of maculopathy associated with optic disk pit by sponge explant. 31. Cox MS, Witherspoon CD, Morris RE, Flynn HW. Evolving techniques in the treatment of macular detachment caused by optic nerve pits. 1988;95(7):889-896. 32. Schatz H, McDonald HR. Treatment of sensory retinal detachment associ ated with optic nerve pit or coloboma. 33. Todokoro D, Kishi S. Reattachment of retina and retinoschisis in pit-macular syndrome by surgically-induced vitreous detachment and gas tamponade. Ophthalmic 34. Bartz-Schmidt KU, Heimann K, Esser P. Vitrectomy for macular detachment associated with optic nerve pits. optic pits. 28. Akiyama H, Shimoda Y, Fukuchi M, et al. Intravitreal gas injection without vitrectomy for macular detachment associated with an optic disk pit. 20. Kuhn F, Kover F, Szabo I, Mester V. Intracranial migration of silicone oil from an eye with optic pit. 2006;244(10):1360-1362. 21. Lincoff H, Kreissig I. Optical coherence tomography of pneumatic displace ment of optic disc pit maculopathy. 22. Gass J. Optic nerve diseases that may masquerade as macular diseases. Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment Mosby; 1997. 23. Padayachy L, Brekken R, Fieggen G, Selbekk T. Pulsatile dynamics of the optic nerve sheath and intracranial pressure. 24. Ooto S, Mittra RA, Ridley ME, Spaide RF. Vitrectomy with inner retinal fenes tration for optic disc pit maculopathy. 25. 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. 26. Lei L, Li T, Ding X, et al. Gas tamponade combined with laser photo coagulation therapy for congenital optic disc pit maculopathy. 2015;29(1):106-114. 27. Lincoff H, Yannuzzi L, Singerman L, Kreissig I, Fisher Y. Improvement in visual function after displacement of the retinal elevations emanating from disc pit maculopathy. pathogenesis of retinal detachment 13. Irvine AR, Crawford JB, Sullivan JH. The with morning glory disc and optic pit. 14. Sugar HS. An explanation for the acquired macular pathology associated with congenital pits of the optic disc. 15. Jain N, Johnson MW. Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. 16. Johnson TM, Johnson MW. Pathogenic implications of subretinal gas migration through pits and atypical colobomas of the optic nerve. Ophthalmol 17. Türkçüoglu P, Taskapan C. The origin of subretinal fluid in optic disc pit maculopathy. 18. Ohno-Matsui K, Hirakata A, Inoue M, Akiba M, Ishibashi T. Evaluation of congenital optic disc pits and optic disc colobomas by swept-source optical coherence tomography. 19. Dithmar S, Schuett F, Voelcker HE, Holz FG. Delayed sequential occurrence of perfluorodecalin and silicone oll in the subretinal space following retinal detachment surgery in the presence of an optic disc pit. 2004;122(3):409-411. 5. Brodsky MC. Congenital optic disk anomalies. 5. Brodsky MC. Congenital 1994;39(20):89-112. optic nerve head: JA, Goldberg RE. Congenital pits of the 6. Brown GC, Shields humans. II. clinical studies in pit of the optic detachment associated with congenital 7. Ferry AP. Macular simulating malignant melanoma nerve head: pathologic findings in two cases of the choroid. J. Spectral domain optical coher 8. Michalewska Z, Nawrocki J, Michalewski pit associated maculopathy. ence tomography morphology in optic disc J Ophthalmol disc pit maculopathy: a review 9. Shah SD, Yee KK, Fortun JA, Albini T. Optic and update on imaging and treatment. macula: secondary to congenital pit of 10. Gass JDM. Serous detachment of the the optic nervehead. pit of the optic disk with macular 11. Theodossiadis G. Evolution of congenital eyes. detachment in photocoagulated and nonphotocoagulated Ophthalmol ID, et al. Cyst formation in optic 12. Theodossiadis P, Theodossiadis GP, Ladas

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. 1882;11:14-19. WATCH IT NOW NOW WATCH IT

s The surgery was performed in 2012. in performed was surgery The We still wonder whether perform whether wonder still We We chose to perform lens-sparing lens-sparing perform to chose We 1. Wiethe T. Ein Fall von angeborener Deformitat der Sehnervenpapille. Augenheilkd 2. Golnik KC. Cavitary anomalies of the optic disc: neurologic significance. Neurol Neurosci Rep 3. Kranenburg EW. Crater-like holes in the optic disc and central serous retinopathy. 4. Georgalas I, Ladas I, Georgopoulos G, Petrou P. Optic disc pit: a review. Graefes Arch Clin Exp Ophthalmol hole into the coloboma. the into hole the and attached, remains retina The 20/200 of BCVA a retains still boy same the fixation, extrafoveal with surgery. before had he vision injecting a gas bubble could have could bubble gas a injecting the However, detachment. the solved of cause the determining in difficulty us convinced detachment total the surgery during Only eye. the enter to of cause the that confirm we could macular a was pathology patient’s the phic macular area from the scleral the from area macular phic pit the seal to serve would This side. relieve to and effect buckling the with tamponade. air and traction and buckle macular the only ing CSF (and potentially the brain) in brain) the potentially (and CSF offer to Therefore, ODP. with patients reattach retinal of chance greater a oil, silicone of use the without ment a with PPV combine to decided we atro the support to buckle macular epithelium over a large area. large a over epithelium litera the In (Video). PPV complete managed been have cases similar ture, tampon final a as oil silicone with however, above, mentioned As ade. the to track a have can oil silicone hole was in the area of the coloboma, coloboma, the of area the in was hole deep, very was coloboma the that pigment retinal no was there that and RETINA TODAY

38 RARE DISEASES INHERITED AND s