Evaluation of baseline optic disc pit and optic disc coloboma maculopathy features by spectral domain optical coherence tomography

PURPOSE: The aim of this study is to describe and compare the baseline demographic, ocular, and imaging characteristics of a cohort of patients with optic disc pit (ODP) or optic disc coloboma (ODC) maculopathy. METHODS: This retrospective study included patients diagnosed with ODP or ODC on clinical examination between June 2017 and December 2022. These patients’ baseline demographics, ocular characteristics, and optical coherence tomography (OCT) imaging characteristics were analyzed. RESULTS: Fundus examination revealed 11 eyes of 11 patients with ODP and 14 eyes of 9 patients with ODC, respectively. On OCT, maculopathy was observed more frequently in ODP (n = 10) than in ODC (n = 4) [p = 0.004] cases. Eyes with ODP were more likely to exhibit retinoschisis and/or serous macular detachment [SMD] (n = 7, 70%), communication of the retinoschisis with the optic disc (p = 0.015), whereas the SMD did not communicate with the optic disc (p = 0.005), and significant outer retinal layer thinning (p = 0.015). In contrast, eyes with ODC exhibited only SMD (p = 0.005) and no retinoschisis on the non-colobomatous retina. SMD in ODC communicated with the margin of the optic disc. In both clinical entities, hyperreflective foci were observed in the SMD. CONCLUSION: In summary, baseline maculopathy characteristics on OCT, including its type, location, and relationship to the optic disc, are among the most distinguishing characteristics between an ODP and an ODC. TRIAL REGISTRATION NUMBER: Not applicable. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40942-023-00484-7.