Congenital versus acquired optic disc pit maculopathy: An OCT based study

The purpose of this study is to describe and compare the demographic, ocular, and imaging characteristics of a cohort of patients with congenital and acquired optic disc pit maculopathy (ODPM).

This retrospective case series included patients diagnosed with ODPM between June 2017 and April 2023. These patients' baseline demographics, ocular characteristics, and optical coherence tomography (OCT) imaging characteristics and follow up changes were analyzed.

A total of 14 eyes with ODPM were identified (9 congenital and 5 acquired). Eyes with congenital ODP developed maculopathy at a younger age, presented commonly with visual symptoms, and exhibited an obvious pit at the temporal foveal margin as well as a high cup: disc ratio (p < 0.05). Primary open-angle glaucoma was identified in all five eyes with acquired ODPM. On OCT, eyes with acquired ODPM lacked the characteristic nerve fibre layer schisis, outer retinal layer hole, and foveal serous macular detachment (p < 0.05) unlike congenital ODPM. At the final follow-up visit, two cases from the congenital ODPM group and one case from the acquired ODPM group displayed complete resolution of maculopathy. The two cases of congenital ODPM were treated with pars plana vitrectomy and laser barrage to the optic disc margin, while the solitary case of acquired ODPM was treated with trabeculectomy surgery alone.

Clinical examination and baseline OCT imaging reveal distinct differences between congenital and acquired ODPM eyes. These characteristics may help with accurate diagnosis and treatment planning for these two distinct clinical entities.