Optic disc pit (ODP) is a congenital anomaly characterized by a round to oval depression within the optic disc. It was first reported by Wiethe in 1882. The prevalence is rare, about 1 in 11,000 (0.01%), with some reports suggesting approximately 2 in 10,000 1).
It can occur anywhere within the disc but is most often found at the temporal margin. Up to one-third are centrally located. The color varies from gray-white to pale yellow to black, depending on the amount and location of glial tissue within the pit. Size ranges from 1/10 to more than half the disc diameter. Usually solitary, but multiple pits can occur.
About 85% are unilateral, with no sex predilection and no clear hereditary pattern. It is often associated with large discs and choroidal coloboma, suggesting involvement of incomplete closure of the embryonic optic fissure.
Unless complicated by serous retinal detachment, it is usually asymptomatic without vision loss. However, 25–75% of cases develop serous macular detachment, causing metamorphopsia, vision loss, and central scotoma. This condition with macular involvement is called optic disc pit maculopathy (ODPM). Peak age of onset is 20–40 years.
Heredity is not clear. It is thought to occur sporadically. About 85% are unilateral, and family history is rarely reported.
Isolated optic disc pit is often asymptomatic and is discovered incidentally during routine dilated fundus examination.
When complicated by optic disc pit maculopathy (ODPM), the following symptoms appear.
Optic disc pit can be identified by slit-lamp microscopy or ophthalmoscopy.
When complicated by maculopathy, the following OCT findings are characteristic.
Retinoschisis-like changes
Contiguous separation from the optic pit: It begins with retinoschisis-like changes connected to the optic pit. The schisis-like space is continuous with the optic pit.
Multilayered changes: Cystoid changes are observed in multiple layers including the inner nuclear layer, outer plexiform layer, and Henle layer1).
Serous macular detachment
Outer lamellar macular hole: When the separation extends to the macula, an irregular outer lamellar macular hole develops secondarily, and the outer retinal layer detaches.
Double elevation: It presents a double line elevation consisting of a bowl-shaped circular detachment in the macular area and a shallow detachment around it.
If macular detachment persists for a long time, the macula may develop cystoid degeneration, lamellar hole, and pigment epithelial atrophy, leading to poor visual prognosis.
Optic disc pit is considered a congenital anomaly resulting from incomplete closure of the embryonic optic fissure (embryonic cleft). This is supported by its frequent association with large optic discs and choroidal coloboma.
Histopathologically, herniation of surrounding dysplastic retina and fibrous tissue through a defect in the lamina cribrosa into the meninges (subarachnoid space) and adjacent optic nerve is observed. Swept-source OCT also reveals a defect in the lamina cribrosa and adjacency of the subarachnoid space at the deep part of the pit.
No specific risk factors are known. It occurs sporadically with no gender predilection. However, blunt ocular trauma and head trauma have been suggested as possible triggers for the onset of ODPM1). In pediatric cases, strong adhesion of the posterior hyaloid face may generate traction on the macula during trauma, potentially inducing ODPM1).
Optic disc pits are often discovered incidentally, and various examinations are performed to confirm the diagnosis and detect complications.
Dilated ophthalmoscopy reveals a gray-white to black depression within the optic disc. For detailed evaluation, binocular examination using a slit-lamp microscope is performed. If the optic disc is large or asymmetric, the presence of an optic disc pit should be suspected.
This is an essential examination for diagnosing ODPM. The following are evaluated:
When observing a cross-section traversing the optic disc and macula with OCT, the shallowly elevated retina at the posterior pole is detected as being split into two layers: inner retinal layer separation and outer retinal layer detachment.
The optic disc pit shows hypofluorescence in the early phase and hyperfluorescence in the late phase. It is more useful for differentiating from central serous chorioretinopathy and subretinal neovascular membrane than for confirming the diagnosis of ODPM.
Visual field defects such as arcuate scotoma, central scotoma, and enlargement of the blind spot may occur. Humphrey visual field testing is useful for differentiating from other progressive optic neuropathies such as glaucoma. Optic disc pits may be associated with nerve fiber layer defects, and visual field testing is helpful for understanding the pathology.
The main differential diagnoses are listed below.
| Condition | Main Differential Diagnoses |
|---|---|
| Optic disc abnormalities | Optic disc coloboma, morning glory syndrome, tilted disc, glaucomatous cupping |
| Maculopathy | Central serous chorioretinopathy, subretinal neovascular membrane |
In differentiating from glaucomatous cupping, key points are that the cupping due to optic disc pit is non-progressive, does not involve rim pallor, and the distribution of retinal nerve fiber layer defects differs.
Optic disc pit is a congenital localized excavation that is non-progressive in adults. Glaucomatous cupping is progressive with rim loss or notching. If rim pallor precedes cupping enlargement, non-glaucomatous changes are suspected. Serial OCT measurements of retinal nerve fiber layer thickness are also useful for differentiation.
For optic disc pits without macular involvement, observation is the basic approach. In children, spontaneous improvement is not uncommon; treatment is considered if visual acuity or OCT findings worsen after several months of observation. Macular detachment occurring in older adults may also resolve spontaneously with the development of posterior vitreous detachment.
Mannaa et al. (2022) reported a case of a 56-year-old male with severe ODPM that dramatically improved after spontaneous posterior vitreous detachment (PVD), with BCVA recovering to 20/30-1 after 36 months 5). This case supports the finding that the fluid in ODPM is of vitreous origin.
Treatment is indicated when macular detachment progresses over several months without posterior vitreous detachment and visual acuity declines. Vitrectomy aimed at inducing posterior vitreous detachment is currently the mainstay of treatment.
The posterior vitreous membrane is visualized with triamcinolone, and posterior vitreous detachment is carefully created from the peripapillary area to the macular region using cutter aspiration or a hook. The posterior vitreous surface or Cloquet’s canal strands may be strongly adherent to the optic pit, and adhesions are released without damaging the pit.
In a retrospective study of 13 cases by Pinheiro et al. (2022), all patients underwent PPV with induction of posterior vitreous detachment and gas tamponade, and mean BCVA improved from 20/200 to 20/50 4). All cases achieved macular reattachment, but 4 cases experienced recurrence of macular detachment 3 to 11 years after surgery.
The main auxiliary techniques used in conjunction with vitrectomy are listed below.
This is a relatively new technique that covers the optic pit with an ILM flap. The flap induces gliosis and cell proliferation within the ODP cavity, closing the communication 1).
Tavallali et al. (2023) performed PPV with induction of posterior vitreous detachment, inverted ILM flap, and C3F8 tamponade in 3 eyes with ODPM 1). One case showed marked improvement in BCVA from 2/200 to 20/25, and all 3 eyes achieved significant anatomical improvement. In a comparative study by Babu et al., the anatomical success rate in the ILM flap group was 85.7%, far exceeding that of ILM peeling alone (25%) 1).
This procedure covers the optic disc pit with a human amniotic membrane graft, forming a physical barrier against fluid inflow.
Busquets (2024) reported performing human amniotic membrane patch using both techniques under perfluorocarbon liquid for refractory ODPM resistant to standard procedures, resulting in complete resolution of subretinal fluid and improvement of BCVA to 20/50 within two weeks 2). At 6 months, after cataract surgery, BCVA recovered to 20/25 with stable outcomes.
Alenazi et al. (2025) performed human amniotic membrane patch in three cases, reporting complete resolution of SRF and visual improvement in all cases 3). On OCT, the patch remained integrated for up to 26 months, with no complications or recurrence. Compared to the ILM flap technique, the risk of macular hole formation may be lower.
Postoperative retinal reattachment is gradual, and complete reattachment takes several months to over a year. Visual improvement follows accordingly. In a report by Pinheiro et al., best visual acuity was achieved at an average of 15.4 months 4). If there is no worsening on OCT during the course, it is important to continue observation without rushing.
Histopathological findings of the optic disc pit show a defect in the lamina cribrosa, with fragile retinal tissue invaginating into the defect, and the subarachnoid space adjacent to the deep portion. Vitreous fibers adhere to the deep part of the invaginated fragile retinal tissue.
There are several hypotheses regarding the origin of subretinal fluid in ODPM.
Vitreous Humor Origin Theory
Posterior vitreous traction: Posterior vitreous traction on the porous membrane covering the optic pit generates negative pressure, drawing liquefied vitreous humor into the retina1).
Supporting evidence: Improvement of ODPM after vitrectomy-induced posterior vitreous detachment or spontaneous posterior vitreous detachment supports this theory1)5).
Cerebrospinal Fluid Origin Theory
Communication with subarachnoid space: The subarachnoid space directly communicates with the intraretinal and subretinal spaces via the ODP, leading to leakage of cerebrospinal fluid1).
Supporting evidence: There are reports of silicone oil entering intracranial cerebrospinal fluid after vitrectomy. OCT findings also suggest communication with cerebrospinal fluid.
Neither hypothesis alone can explain all cases, and it is believed that both vitreous humor and cerebrospinal fluid can be sources of fluid1). Fluid flow due to the pressure gradient between intraocular pressure and intracranial pressure at the pit site exists around the fragile retinal tissue, and posterior vitreous traction due to aging or ocular trauma is thought to trigger fluid inflow into the intraretinal and subretinal spaces.
The progression process observed by OCT is as follows:
Tavallali et al. (2023) introduced two types of OCT patterns for ODPM in a literature review: (i) a serous detachment-dominant pattern common in children and (ii) a multilayered separation pattern common in adults 1). Fluid can migrate in multiple layers centered on the outer nuclear layer, but a direct route to the subretinal space without passing through inner layer separation also rarely exists.
Covering the optic disc pit with a human amniotic membrane graft is a relatively new technique, and long-term outcome data are accumulating.
Alenazi et al. (2025) performed human amniotic membrane patching in three cases of ODPM, and complete resolution of subretinal fluid was confirmed in all cases 3). During follow-up of up to 26 months, the patch remained integrated on OCT, with no recurrence or patch-related complications. Microperimetry showed moderate reduction in retinal sensitivity, which was attributed to the duration of ODPM. The risk of macular hole formation, reported in 9.2–50% with the conventional ILM flap technique, may be lower.
Busquets (2024) reported a bimanual technique under chandelier illumination and fixation of the human amniotic membrane patch with perfluorocarbon liquid for refractory ODPM 2). Unlike the conventional single-forceps method, the adhesive surface of the amniotic membrane could be precisely positioned. The PFO liquid was removed after one week of retention.
Since improvement of ODPM can occur spontaneously after posterior vitreous detachment 5), enzymatic vitreolysis with ocriplasmin and other agents may have potential application in ODPM treatment. However, at present, this remains at the research stage.
Cyrino et al. (2024) reported a case of a 12-year-old boy who developed ODPM while playing the bassoon and experienced recurrence after resuming playing following treatment 6). Based on the CSF pressure and IOP difference, avoidance of activities involving Valsalva is recommended.
Activities involving strong Valsalva maneuvers, such as playing wind instruments or weightlifting, should be performed with caution regarding the risk of ODPM recurrence.
