Shruthi Mankal
Introduction
First described by Wiethe in 1882, optic disc pits are cavitary abnormalities of the optic nerve head, which may be congenital or acquired (1). The main complication is optic disc pit maculopathy (ODPM), characterised by the accumulation of intraretinal and subretinal fluid. Timely identification is crucial as ODPM results in a deterioration in vision, and if left untreated, is associated with serous macular detachment with central vision loss (2).
Epidemiology
Optic disc pits have a prevalence of 2 in 10,000 (3,4), with up to 75% of patients developing a retinal detachment associated with ODPM in their lifetime (3). Presentation is typically that of a single, unilateral pit, though bilateral cases and those involving multiple pits have been reported (5). Systemic conditions associated with an increased risk of developing ODPM include Alagille syndrome, Aicardi syndrome and bilateral renal hypoplasia (5).
Pathophysiology
The origin of the intraretinal and subretinal fluid in ODPM remains widely debated, with the two most common theories being origins from vitreous humour and cerebrospinal fluid (CSF) (5). Animal studies have found Indian ink injected into the vitreous cavity of dogs subsequently observed in the subretinal space, and a separate report observing subretinal gas migration through optic disc pits further supports direct communication between the vitreous cavity and subretinal space (6,7). However, this phenomenon has not been demonstrated on OCT (1).
Johnson and Johnson proposed that optic disc pits could house connections between the subretinal space and subarachnoid space (6). In turn, pits could act as a conduit, allowing the transmission of intracranial pressure from the CSF into the eye (5,8). Subsequent pressure gradients may allow ingress of either vitreous or CSF into the intraretinal and subretinal space (3,6). Swept-source OCT studies lend some support to this hypothesis, though such connection between the subretinal space and subarachnoid space has not been consistently demonstrated (3,8). Regardless of the origin of fluid, vitreous traction is generally thought to play a role in pathophysiology of ODPM (1,3), with many surgical approaches focused on relieving this traction (9).
Clinical Features
ODPM typically develops between the ages of 30-40, initially thought due to an increase in posterior vitreous detachment in this cohort, though paediatric cases are reported (1). Whilst optic disc pit alone may be asymptomatic, most patients with ODPM experience a gradual, progressive visual loss corresponding with the formation of serous macular elevations (1,10). Visual acuity varies from 20/25 to counting fingers depending on the extent of schisis and serous macular detachment (5). Other reported symptoms include a paracentral arcuate scotoma, metamorphopsia, or an enlarged blind spot if associated with serous retinal detachment (11–13).
Diagnosis
Fundoscopy
Optic disc pits are visible on fundoscopy as a round or oval depression which is a different colour to the surrounding optic disc (either yellow, white, grey, or black) (1,5). Most pits occur in the inferior-temporal quadrant of the optic disc (1,12).
OCT
OCT is essential to detect complications of macular schisis in inner retinal layers – seen as intraretinal hyporeflective cavities due to intraretinal fluid collections, or subretinal fluid collections resulting in serous macular detachment (5). Exact findings are variable depending on which layers are affected, as fluid has been to accumulate in the sub-internal limiting membrane space, the inner nuclear layer, the outer nuclear layer and the subretinal space (1,3).
Fundus autofluorescence
Fundus autofluorescence identifies areas of serous retinal detachment or inner retinal schisis with hypofluorescence, whilst subretinal precipitates show a granular, hyperfluorescent pattern (12).
Management
Conservative management
Conservative management of ODPM was initially considered due to spontaneous resolution of 25% of cases (12). However, poor visual outcomes have led to the adoption of surgical approaches. Despite numerous treatments available, there is no consensus as to optimal management, given the rarity of ODPM preventing large, comparative trials.
Conventional interventions
Pars plana vitrectomy (PPV) is the most widely used treatment for serous macular detachment associated with ODPM (5). PPV is often combined with adjuncts such as laser, gas tamponade, or internal limiting membrane (ILM) peeling to eliminate tangential traction (12).
Laser photocoagulation has been used to induce a chorioretinal scar, which acts as a barrier to fluid accumulation (12). Although laser has been used alone, variable success rates have led to its use as an adjunct to PPV or intravitreal gas injection (11,14).
Intravitreal gas injection has been trialled to promote pneumatic displacement and subsequent macular reattachment (12), though has seen poor anatomical success unless used in conjunction with laser (15,16).
Macular buckling involves the insertion of a sponge implant at the posterior pole of the globe, providing mechanical support and relieving traction (12). It has shown anatomical and functional benefit in a case series, with reports of improved long-term visual acuity, though the technical difficulty of the surgery has limited its use (12,17).
Emerging techniques
An inverted ILM flap has been used to physically seal the pit and prevent further subretinal and intraretinal fluid migration (12,18). Autologous tissue grafts may also be beneficial in mechanically sealing the pit, with a scleral tissue graft having shown anatomical and visual success in a small case series (9). Fibrin tissue adhesives have shown success in small case series (19–21), though the theoretical risk of viral transmission, and the potential communication between the optic disc pit and the CSF warrants larger studies evaluating their safety (1,22).
Conclusion
Optic disc pit maculopathy is an uncommon but sight-threatening disorder. Its clinical significance lies in the risk of progressive serous macular detachment and irreversible visual loss. Careful fundus examination and OCT are central to diagnosis. Management continues to evolve, with PPV and adjunctive techniques remaining the most widely adopted management strategy. Innovative approaches such as ILM flaps, tissue grafts, and bioadhesives show promise, though larger, comparative clinical studies are required to establish the relative efficacy and safety of these treatment strategies. Awareness of this condition is essential to ensure early recognition, appropriate referral, and timely intervention to preserve vision.
References
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