Researchers have found that optic disc pit maculopathy (ODPM) is an underdiagnosed entity and can mimic other causes of macular subretinal fluid.

In the international study, the team divided a cohort of patients with ODPM presenting with neurosensory macular detachment into two groups, initial diagnosis of ODPM and misdiagnosis with or without mistreatment.

In 59 eyes from 59 patients, 44 were misdiagnosed initially and 40 were mistreated. Age-related macular degeneration (n=21) and myopic choroidal neovascularization (n=9) were the most common initial diagnoses.

The group of eyes correctly diagnosed initially consisted of 15 patients who were significantly younger than those initially misdiagnosed (mean age of 38.8 vs. 58.7). Researchers suggest that the common belief that optic disc pit occurs in young patients has led to initial misdiagnoses before referral. While the data suggests older patients are frequently underdiagnosed with ODPM, the researchers could not draw any conclusion about the incidence in the elderly population based on their data.

When identifying optical coherence tomography (OCT) features of the macula and optic disc in the two groups, the study found that all patients presented with submacular fluid, 75.9% showed outer retinoschisis and 49.1% of cases showed inner retinoschisis. Outer retinoschisis can resemble cystoid macular edema, a possible impediment in the diagnostic process for older patients.

Researchers conclude that awareness and identification of pertinent OCT features can help avoid misdiagnosis, potentially harmful and unnecessary treatments and delay of proper therapy.

Iglicki M, Busch C, Loewenstein A, et al. Underdiagnosed optic disk pit maculopathy: spectral domain optical coherence tomography features for accurate diagnosis. Retina. July 24, 2018. [Epub ahead of print].