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Optic Disc Pit Maculopathy: A Review

Kalogeropoulos, Dimitrios MD*,†; Ch'ng, Soon Wai MBChB, FRCOphth*; Lee, Rynn MBBS, FRCOphth*; Elaraoud, Ibrahim FRCOphth*; Purohit, Maninee MD*; Felicida, Vinaya MS*; Mathew, Magie FRCOphth; Ajith-Kumar, Naduviledeth FRCS, MRCOphth*; Sharma, Ash BSc, FRCOphth*; Mitra, Arijit DO, FRCSEd*

The Asia-Pacific Journal of Ophthalmology: May 2019 - Volume 8 - Issue 3 - p 247–255
doi: 10.22608/APO.2018473
Review Article
Free

Abstract: Optic disc pit (ODP) is a rare congenital anomaly of the optic disc that can be associated with maculopathy leading to progressive visual deterioration. The vast majority of cases are sporadic and no obvious factors have been correlated with the development of maculopathy. Optic disc pit maculopathy is defined by the concentration of intraretinal and subretinal fluid at the area of macula. Despite the advances in the imaging of the fundus, the origin of the fluid remains unknown and the exact pathogenesis of the maculopathy is not fully understood. Although some cases have been reported to resolve spontaneously, most cases require surgical intervention in order to treat ODP maculopathy and prevent loss of vision. Currently, there is no definite treatment for these patients and several surgical methods have been described, including pars plana vitrectomy (PPV) (combined with various techniques, such as inner retinal fenestration, autologous fibrin, and glial tissue removal), laser photocoagulation, intravitreal gas injection, and macular buckling. Overall, PPV remains the main form of surgical repair of ODP maculopathy. Although our understanding of the background and the pathophysiology of the disease has significantly improved, more studies are required in order to define the optimal treatment. This review summarizes the potential pathogenesis, as well as the diagnostic and therapeutic approach of ODP maculopathy.

From the *Birmingham and Midland Eye Centre, Birmingham, United Kingdom;

Department of Ophthalmology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, Greece; and

Ophthalmology Department, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, United Kingdom.

Submitted November 13, 2018; accepted April 23, 2019.

The authors have no funding or conflicts of interest to declare.

Reprints: Dimitrios Kalogeropoulos, Department of Ophthalmology, Birmingham and Midland Eye Centre, City Hospital NHS Trust, Dudley Rd, Birmingham B18 7QH, United Kingdom. E-mail: dkalog1990@gmail.com.

Optic disc pit (ODP) is a rare anomaly of the optic nerve head. It belongs to the spectrum of congenital cavitary anomalies of the optic disc which encompasses extrapapillary cavitation, optic disc coloboma, and morning glory.1 There is no gender predilection and ODPs occur with an estimated prevalence of 2 in 10,000.2,3 Although they are typically unilateral, bilateral presentation has been recorded in up to 15% of cases (Fig. 1).4,5 The vast majority of cases are sporadic, but autosomal inheritance has also been suggested in some families with many affected members.6,7 In regard to the ODP formation, no specific genetic associations have been identified yet.

FIGURE 1.

FIGURE 1.

On fundus examination, ODPs typically appear as single grayish, round or oval depressions at the optic disc. Most commonly, they are detected at the inferotemporal segment of the disc, but may also be observed elsewhere, including the central segment.4,8 They are often related to strands of attached and condensed vitreous collagen at the retinal surface.9,10 Optic discs with more than 1 pit have been recorded.11 From the histopathological point of view, an ODP is defined as herniation of dysplastic retinal tissue into an excavation, rich in collagen, which can stretch into the subarachnoid space via a defect in the lamina cribrosa.11,12 Interestingly, this structural abnormality that leads to a non-physiological communication between the intraocular and extraocular spaces is a common feature among all the congenital cavitary anomalies of the optic disc.10

The exact pathogenetic mechanism of ODP remains uncertain and no associations with other systemic or eye diseases have been revealed.1,4 Although an ODP is usually asymptomatic and may be observed incidentally, it may cause visual field defects, such as paracentral arcuate scotomas or an enlarged blind spot.9,10,13 It has been estimated that approximately 25% to 75% of patients will develop serous detachment and/or retinoschisis of the central macula at some stage of their life, leading to the so-called optic disc pit maculopathy (ODP-M).9,14 In such cases, the visual acuity (VA) is affected, and may have Snellen VA of 20/70 or lower.8 The coexisting macular detachment can be related to lamellar or full-thickness macular holes, cystoid changes, retinal pigment epithelium atrophy and eventually to irreversible loss of vision with VA even worse than Snellen 20/200 and poor prognosis, especially in longstanding cases.15-17

In regard to ODP-M, several case reports and cases series are available in the current literature, but only a few population-based studies have been reported.18 Ideally, more studies are required to investigate the clinical manifestations and the course of ODP-M.

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PATHOGENESIS OF THE DISEASE

Although ODP-M is a well-recognized clinical entity, initially described by Wiethe in 1882,19 the exact origin and pathogenesis of the intra- and sub-retinal fluid remain obscure.1,19,20 Interestingly, there are no obvious or known triggering factors for the development of ODP-M. It characteristically occurs during the third or fourth decade of life,5,21 but in many cases can occur much earlier. It has been hypothesized that it may be associated with posterior vitreous detachment (PVD).1,4,21 However, this may not be the cause, as ODP-M has also been recorded in children with no vitreous liquefaction.1,22 Various pathogenetic mechanisms have been proposed, leading to different therapeutic approaches and interventions. Of note, ODP-M is a relatively rare disease and therefore direct comparison of different treatments which require a large number of patients is not possible.

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Origin of Fluid in ODP-M

The pathophysiology of ODP-M has not been fully defined. The origin of fluid and the exact mechanism remain unclear. Four different potential sources of intra- and sub-retinal fluid have been described in ODP-M:

  1. Experimental data deriving from studies on Collie dogs showed that intravitreal injection of India ink dye was subsequently detected in the subretinal space.23,24 However, it is noteworthy that glycosaminoglycans, an important component of the vitreous humor, were not found during the examination of the subretinal fluid in the eyes of these dogs.23 Moreover, both imaging and histological investigations showed that there is no direct communication between the vitreous cavity and the subretinal space through the ODP defect. On the other hand, a histopathologic examination of 2 human eyes with ODP-M highlighted the presence of mucopolysaccharides, another vitreous component, inside the ODP.25 In addition, other studies have demonstrated the transit of gas or silicone oil from the vitreous to the subretinal space in individuals with cavitary abnormalities of the optic disc, including ODP.26-28
  2. It has been postulated that cerebrospinal fluid can pass from the subarachnoid space through the ODP and eventually enter the intra- and sub-retinal spaces.29,30 Optical coherence tomography (OCT)-based studies have revealed a direct communication between the subarachnoid space and the subretinal space.31 Moreover, it has been observed that after pars plana vitrectomy (PPV) and intravitreal gas injection, gas bubbles percolate out of an optic nerve sheath window. This indicates that there is a continuity between the optic nerve subarachnoid space and the posterior vitreous.11 However, it must be stressed that the communication between subarachnoid space and subretinal space cannot be detected by time-domain OCT with accuracy. A similar connection has also been recorded in morning glory syndrome.32 Furthermore, a case report of a patient with an ODP that underwent silicone oil implantation described an intracranial migration of silicone oil.33 Of note, the aforementioned connection between the subretinal and subarachnoid spaces was not confirmed by another study based on the use of intrathecal fluorescein.34
  3. The concept of leaking blood vessels at the ODP has also been suggested15 and was based on the fact that fluorescein angiography showed late hyperfluorescence and segments of macular elevation in eyes with ODP-M.14,35 However, this feature is not present in all patients with ODP-M.9
  4. Fluid in ODP-M may also derive from the choroid, via Bruch membrane and peripapillary atrophy,36 but this source is quite unlikely, as subretinal fluid is not common in other pathologies that also cause significant chorioretinal atrophy.9,20
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Pathogenetic Mechanisms of ODP-M

Apart from the lack of certainty in regard to the origin of fluid, the exact pathogenetic mechanism of ODP-M is also poorly understood. Various mechanisms have been proposed, but none of them has been proven. Although ODP is a congenital anomaly, no obvious triggering factors have been associated with the development of maculopathy.20 As mentioned above, ODP-M can occur at any age but typically is expected to occur in individuals during the third and fourth decades of life.5,21 Taking into consideration that progressive vitreous liquefaction starts approximately at the same time, vitreous traction may be related to the development of ODP-M. Shah et al13 summarized the data from other studies of patients with ODP, and found that most of the patients with ODP-M also had PVD, in contrast with those without ODP-M. Furthermore, ODP-M can resolve spontaneously after the completion of PVD.37

Pars plana vitrectomy has been reported to be effective in the treatment of ODP-M. This approach is based on the fact that relieving the traction of vitreous over the ODP can contribute to the resolution of ODP-M.1,33,38 Interestingly, several OCT-based studies have illustrated vitreous strands over ODPs,31,33,39 whereas the development of a membrane over ODP prior to ODP-M can also occur, probably as a result of the vitreous traction.12,40,41 It has been observed that ODP-M can develop after disappearance of this membrane. On the other hand, vitreous traction is not always present over ODPs, whereas ODP-M can recur after PPV, indicating that vitreous traction must be related with it.38,39,42,43

According to another hypothesis, pressure gradients within the eye lead to migration of fluid from the vitreous humor to the subretinal space. A pressure gradient can be observed in patients with ODP, as the intracranial pressure is transmitted to the ODP through the cerebrospinal fluid. Consequently, vitreous fluid can pass into the ODP when the intracranial pressure is low. On the contrary, when the intracranial pressure is elevated, the fluid is suppressed back into the eye, dissecting within or under the retina.1,44 This could also explain the reason of subretinal, intraretinal, and intracranial transition of gas or silicone oil in eyes with ODP.11,26-28,33

Regardless of the fluid origin, it appears that a generally accepted sequence of events happens in ODP-M.1,9,20,45 Initially, fluid deriving from the ODP causes an inner retinal separation that resembles a schisis and is correlated to a mild cecocentral scotoma. Afterwards, a subretinal dissection of the fluid leads to an outer retinal detachment.29,30

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CLINICAL EXAMINATION

Typically, ODP presents as a round or oval excavation near the margin of the optic disc. Usually, it is observed in the inferior temporal quadrant of the disc, with its long axis parallel to the margin. However, it has been recorded that approximately 10% to 20% can be located centrally.8 The size of the ODP may vary from one-eighth to one-quarter of the optic disc, and with a gray-white color. Fine interlacing tissue, most probably glial in nature, appears to fill the cavity up to some extent.5,9,14 Although the appearance of central retinal vessels is frequently normal, in some cases a vessel can make its way toward the depth of the pit and disappears, then it reappears on the other side of the pit. Interestingly, cilioretinal and optociliary vessels can also pass to and from the pit.14 In cases that develop ODP-M, the amount of intraretinal fluid and the degree of neurosensory retinal detachment may vary substantially. These findings are mainly observed between the supratemporal and inferotemporal arcades, but they can potentially progress beyond this area. It must be emphasized that the extent of macular elevation is not associated with the size of the pit.8,9 Complications of untreated or persistent cases of ODP-M include macular and pigmentary alterations.8,46

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PRESENTING SYMPTOMS AND CLINICAL SIGNS

During routine examination in asymptomatic individuals, ODP and ODP-M may be detected incidentally. Patients with ODP are asymptomatic, whereas a majority of patients with ODP-M complain of recent gradual decrease of vision.21 The drop in VA is consistent with the development of serum macular elevations. Depending on the degree of maculopathy (ie, extent of schisis, sensory detachment, and duration), VA can vary from Snellen 20/25 to counting fingers. It has been reported that a small number of patients have mentioned impairment of vision when bending over.8,14,38 Visual fields and color vision may also be affected.8,14,21

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IMAGING

Fundus Autofluorescence

Fundus autofluorescence (FAF) is a very useful imaging tool for illustrating natural or pathological fluorophores in the fundus and has been facilitated in the study of a wide spectrum of retinal conditions.47,48 The main source of autofluorescence is lipofuscin, which is detected in the outer segment of photoreceptors.48 An FAF-based study described hyperfluorescent subretinal deposits limited to the outer retina. These deposits could be seen near areas with serous retinal detachments.49 Another study by Hiraoka et al50 used infrared and FAF imaging to investigate patients pre- and post-vitreous surgery without laser treatment. Preoperatively, hypofluorescent areas of serous detachment and inner retinal schisis could be observed on both imaging techniques. Postoperatively, it was noted that hypofluorescent areas changed to brighter areas, whereas the retinal schisis and detachment was reduced or resolved. Additionally, it was observed that outer retinal schisis could not be detected by either FAF or infrared. The appearance of outer retinal defects was variable in FAF, but they appeared brighter on infrared images.50 A more recent study analyzed the FAF features from patients with bilateral ODP and showed different characteristics in both eyes. More specifically, both eyes had retinoschisis and serous macular detachment, but in 1 eye a central area of hyperfluorescence was noted, whereas the fellow eye was more hypofluorescent.51

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Optical Coherence Tomography

The features of ODP-M that can be illustrated with OCT have very variable patterns, depending on the affected retinal layer. A study by Lincoff et al45 suggested the existence of a bilaminar structure that allows fluid from the ODP to create a schisis-like cavity that leads eventually to a neurosensory detachment through a retinal hole. This hypothesis was supported by other authors who confirmed the concept of a bilaminar structure in some ODP-M cases.29,30 On the contrary, Moon et al52 studied 2 cases with serous macular detachment related to ODP-M without any signs of inner retinal schisis, proposing that the fluid can directly invade into the subretinal space. Imamura et al43 used spectral-domain OCT and found that the fluid was mainly accumulated in the outer nuclear layer (94%), followed by the inner nuclear layer (81%), the ganglion cell layer (44%), and the sub-internal limiting membrane (13%). Furthermore, 69% of eyes were diagnosed with a neurosensory detachment, but only 1 of them had an outer layer hole, and 81% of these eyes had intraretinal fluid in more than 1 layer of the sensory retina.43 These findings were confirmed by the study of Roy et al53 as 100% of eyes (32 cases) had fluid in the outer nuclear layer, and 53% had subretinal fluid together with inner and outer retinal schisis. Based on these findings, the authors suggested that fluid could probably move into the outer retinal layer and then move into 2 possible directions: the subretinal space and/or the inner retinal layer. The substantial contribution of spectral-domain OCT in the study of the manifestations and the clinical course of ODP-M has also been highlighted by Michalewski et al,54 who examined 19 patients with maculopathy. According to their study, 3-dimensional spectral-domain OCT scans revealed a 3-fold connection: between subretinal and intraretinal space, perineural space, and the vitreous cavity suggesting that intraretinal or subretinal fluid in ODP-M may have both a vitreous and cerebrospinal origin.

Optical coherence tomographic scan plays a pivotal role in cases with occult ODPs; a small number of case reports have reported typical maculopathy without an obvious disc pit (either clinically or on OCT).42,55-58 Zaidi et al55 noticed abnormal cavitations in the stroma of the optic nerve head, whereas Hedels and Krohn57 described the existence of anomalous cavitations at the temporal edge of the disc. The latter study supported that the absence of an intact membrane over the disc could be associated with the development of a schisis-like maculopathy. Another case report by Nagesha and Ganne58 also showed that OCT could detect an anomalous cavitation in the stroma of the optic nerve head pit, as well as an incomplete membrane over the disc. These findings suggest that the presence of an incomplete membrane may enable the fluid concentration in the stromal cavitations and eventually in the subretinal and outer retinal spaces.

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Fluorescein Angiography and Indocyanine Green Angiography

Fluorescein angiography illustrates hypofluorescence in the early phase but staining of the ODP in the late phases.9,35,37,59 Moreover, there is no extension of dye toward the macula and no fluorescein leaks from the pit.59,60 Theodossiadis et al35 studied the fluorescein and indocyanine green (ICG) angiographic findings in 17 eyes with congenital ODP. All eyes had a clearly delineated area of late hyperfluorescence representing the macular elevation.35 On the other hand, absolute hypofluorescence of the ODP was observed on ICG during all phases of the study. Another ICG finding detected in all eyes was a well-demarcated late hyperfluorescence corresponding to the late hyperfluorescence of the macular elevation seen on fluorescein angiography.35

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VISUAL FIELDS

Two different mechanisms can lead to visual field defects in patients with ODP.61 The first is probably associated with the displacement of nerve fibers by the ODP which usually causes an arcuate scotoma. However, all types of visual field defects (paracentral scotomas, enlarged blind spots, nasal or temporal steps, altitudinal defects, or generalized depression) can be observed.9 The second mechanism is likely to be caused by a serous retinal detachment, which typically leads to either a central scotoma or other central visual field defects.10 Lincoff et al45 showed that although the separation of the inner retinal layer causes a mild scotoma with a relatively good VA, it is the outer layer detachment that is related to a dense central scotoma.

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MANAGEMENT AND THERAPEUTIC APPROACH

Initial Approach for the Treatment of ODP-M

Early reports recommended conservative treatment and in particular treating ODP-M with oral corticosteroids,1,62 but this approach is no longer a legitimate therapeutic option. In terms of conservative treatment and taking into consideration that some cases of ODP-M may resolve spontaneously,62-64 laser photocoagulation was introduced as a potential treatment. It was suggested that applying laser spots at the temporal disc margin would lead to chorioretinal adhesion deriving from the laser scars and therefore prevent the invasion of fluid into the macula by creating a barrier between the ODP and the subretinal space.15 The initial attempts to treat patients with xenon laser were proved ineffective and therefore argon laser was introduced.15 The application of this method calls for special attention in order to avoid causing any damage to the retinal layers in the macular area. The results of laser treatment vary significantly. More specifically, some small case series showed absorption of fluid and reattachment of the retina.21,65 However, other studies have reported very low success rates that were most commonly related to severe visual field defects and no improvement of VA.16,43 In addition, the time of improvement and reconciliation varied and in many cases prolonged.62,65 Most probably, the low success rates can be attributed to the absorption of laser energy by the choroid and the retinal pigment epithelium, leaving the macular schisis unaffected.66

However, the natural course of the disease in combination with the persistence of fluid indicated that a more efficient approach was required and therefore several other surgical methods were adopted in order to avoid visual impairment and improve final outcome.67

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Current Approach for the Treatment of ODP-M

Pars Plana Vitrectomy

Pars plana vitrectomy is the current mainstay of treatment for ODP-M. Usually a 23-gauge or a 25-gauge PPV is applied, in combination with laser treatment, gas tamponade, and/or internal limiting membrane (ILM) peeling (Fig. 2). More specifically, the core vitrectomy is followed by surgical induction of PVD, which is achieved by aspiration with a backflush needle. Complete PVD induction during surgery is substantial for releasing the traction and subsequently leading to macular reattachment.38,39 As soon as the posterior hyaloid membrane and the detached vitreous have been removed, an ILM peeling can also be carried out with a pair of end-gripping forceps. As mentioned above, laser treatment can also be applied at the temporal side of the ODP. The final step is gas tamponade with sulfur hexafluoride (SF6) or perfluoropropane (C3F8), which is used to form a temporary barrier and block the passage of fluid via the ODP.67

FIGURE 2.

FIGURE 2.

Several older anecdotal reports have reported PPV with or without endolaser to the temporal disc margin and gas tamponade as an efficient technique for the anatomical and visual restoration in patients with ODP-M.68-72 The use of silicone oil is generally avoided in the treatment of eyes with ODP-M, as it has been reported to migrate intracranially through the ODP.33 The successful results of these studies contributed to the gradual development of this surgical method. More recent reports on PPV for ODP-M described internal submacular fluid drainage.71,73,74 Intraoperative OCT technology has also been facilitated with the assistance of eye surgeons in performing effective subretinal drainage.75 Moisseiev et al76 summarized the results of studies that used PPV with or without combined techniques. Overall, the reports that used PPV in patients with ODP-M have shown promising results and long-term visual improvement.18,38,46,77-85 According to the results of these studies, the anatomical success rate was between 50% and 95%, whereas the VA has improved in approximately 50% of cases.18,38,46,77-85 More recently, the use of an inverted ILM-flap has been introduced as a novel PPV-related technique. The concept of this technique is to cover the optic disc, including the ODP and excluding the fovea, using the ILM-flap and has demonstrated favorable results. However, the evidence remains low and more studies are warranted.86,87

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Pneumatic Tamponade With or Without Laser Photocoagulation

It has been suggested that intravitreal gas tamponade with or without laser application can be considered to be another therapeutic option for ODP-M, as pneumatic displacement can lead to reattachment of the macula and improve VA.88 In particular, pneumatic tamponade triggers PVD and alleviation of the macular traction,39 whereas the laser seals the passage between the ODP and the fovea.89 This technique has only been reported in case series with small number of patients showing visual improvement, although retinal reattachment was observed in approximately 50% of the cases.89,90 Additionally, it was shown that combining intravitreal gas injection and laser photocoagulation temporally to the disc has led to reduction of fluid and visual improvement in all patients, whereas the intraretinal and subretinal fluids completely resolved in 75% of eyes.91

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Macular Buckling

Macular buckling was initially introduced by Theodossiadis et al as an alternative therapeutic approach for ODP-M.92-96 A long-term success rate of approximately 85% was reported, with complete resolution of fluid, and improved VA and visual fields (within 30° of fixation). This surgical technique involves a sponge implant fixation to the posterior segment of the globe along the 6-to-12 o'clock meridian, providing a buckling effect under the macula. No application of additional gas, laser, or cryotherapy is required.94 This ab externo compression creates a barrier, blocking the route of fluid between the ODP and the macula.44 Macular buckling has shown to be an effective treatment for more than a decade, with long-term visual improvement and low rates of complications or recurrences.92 Furthermore, restoration of foveal outer retinal layer was also highlighted by OCT.97 Interestingly, this technique has shown promising results regardless of the origin of fluid in eyes with ODP-M.67 Despite the impressive results of this technique, it is rather difficult to apply and has a long learning curve. The anatomical and functional results of the technique are based on the pathophysiology of the disease, since the subretinal fluid in ODP-M may derive from both subarachnoid space and vitreous cavity.

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Other Techniques

Several other surgical approaches have been facilitated for the treatment of ODP-M, including inner retinal fenestration, autologous fibrin and glial tissue removal.98,99 A study by Ooto et al98 evaluated the clinical outcomes after vitrectomy with inner retinal fenestration using a bent 25-gauge needle. They performed PPV with inner retinal fenestration in 18 eyes with ODP-M in order to create partial-thickness retinal hole temporal to the ODP and treat the ODP-M. It was shown that anatomic and functional improvement was achieved without any additional treatments, and improvement in VA was reported in 56% of eyes. Their results indicated that inner retinal fenestration can cause redirection in the flow of the fluid in the vitreous cavity instead of in the retina.98 The use of autologous fibrin has also been described as a promising contribution for the treatment of persistent ODP-M.99-101 Autologous fibrin was harvested from the patients' whole blood and layered over pit in order to seal the pit area followed by fluid-air-gas exchange. Mainly combined with vitrectomy, this technique could augment favorable outcomes in the surgical repair of ODP-M.99-101 However, there is still inadequate evidence in regard to this method. Finally, a case report showed improved vision after vitrectomy combined with glial tissue removal from a patient with ODP-M. After removal of the glial tissue at the area of the ODP, C3F8 was injected intravitreally as gas tamponade. The retinal detachment and schisis disappeared after a 6-month follow-up period, with an improved VA to 20/20 without visual field defects.102

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CONCLUSIONS

The management of ODP-M is challenging and calls for a very careful assessment and individualized approach. Although it is a rare condition, it is likely that the majority of vitreoretinal surgeons will have to deal with such patients throughout their career. The lack of adequate published data makes patient counseling and decision making even more complicated. Although spontaneous resolution may occur, the prognosis is generally poor and can lead to severe visual loss if left untreated. Consequently, the current management involves surgical treatment in order to preserve vision and avoid further complications. Of note, PPV remains the mainstay of treatment for ODP-M, either alone or in combination with other surgical modalities (eg, fenestration, gas tamponade, laser photocoagulation etc). It appears that macular buckling can be equally efficient regardless of the fluid origin. However, this procedure is more laborious, requires experience, and with a longer learning curve. Other alternatives that have been more recently reported—such as autologous fibrin, inner retinal fenestration and glial tissue removal—demonstrated promising results, but further studies with larger cohorts of patients are required to confirm their efficacy. It is expected that better understanding of the pathogenetic mechanisms will contribute to the improvement in the management of ODP-M and therefore achieving better outcomes.

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Keywords:

congenital anomalies; optic disc pit; optic disc pit maculopathy; surgical treatment; vitrectomy

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