OCT-Derived Biomarkers in Optic Disc Pit Maculopathy Are Associated with Age, Visual Function, and Natural History

Optic disc pit maculopathy (ODP-M) describes the variable intra- (IRF) and/or subretinal fluid (SRF) accumulation complicating a congenital optic disc anomaly that is primarily observed in young adults. This study aimed to explore the morphological variance in ODP-M, in order to measure associations between demographic and functional characteristics and investigate the natural course of the disease.

A single-centre, retrospective, observational study was performed. Subjects with ODP-M were identified through electronic notes review. Demographic characteristics, visual acuity, and anatomical features were analysed with respect to a predefined OCT-based sub-categorisation: type 1a: IRF only; type 1b: IRF + outer lamellar hole (OLH) +/- SRF; type 2: SRF +/- IRF (no OLH).

Fifty eyes (50 subjects) were sub-categorised according to fluid distribution into type 1a (34%), type 1b (28%), and type 2 ODP-M (38%). Those with type 2 were found to be significantly younger than those with types 1a/b ODP-M (p < 0.001) and accounted for 93% of cases occurring in subjects ≤20 years old. The presence of OLH (i.e., type 1b) was noted to be independently associated with worse final VA (p = 0.013) and higher likelihood of proceeding to surgery (p = 0.002).

There appears to be an age-related variation in ODP-M morphology, indicating the possibility of separate pathoanatomical processes, with distinct clinical courses and potentially different optimal management strategies. Sub-categorisation of ODP-M according to the reported structural features may help guide management of this rare condition.