Underdiagnosed optic disk pit maculopathy : Spectral Domain Optical Coherence Tomography Features For Accurate Diagnosis

PURPOSE: To report a cohort with optic disk pit maculopathy (ODPM) presenting with neurosensory macular detachment that were initially misdiagnosed and mistreated; and to describe structural features on spectral domain optical coherence tomography in misdiagnosed and all other consecutive cases of ODPM. METHODS: Multicenter international retrospective cohort study. PARTICIPANTS: 59 eyes from 59 patients with ODPM. MAIN OUTCOME MEASURES: 1) Proportion of patients with ODPM initially misdiagnosed, inaccurate diagnosis and treatment. 2) Morphologic features on spectral domain optical coherence tomography: other causes of subretinal and/or intraretinal fluid, inner/outer retinoschisis, communication with optic disk pit, and retinal pigment epithelium alterations. 3) Visual and anatomical outcomes 6 months after proper treatment. RESULTS: Fifteen patients (25.4%) with ODPM were correctly diagnosed initially and those were significantly younger than misdiagnosed cases (age 33.8 ± 15.2 vs. 58.7 ± 15.8 years, P < 0.0001). Forty of forty-four misdiagnosed eyes (90.9%) were treated for their presumed diagnosis before referral. Eyes with initial misdiagnosis had significantly more outer retinoschisis at baseline (88.4 vs. 40.0%, P = 0.0002) and more retinal pigment epithelium alterations (90.0 vs. 27.3%, P < 0.0001) 6 months after proper treatment. CONCLUSION: Optic disk pit maculopathy is an underdiagnosed entity and can mimic other causes for subretinal fluid. Awareness and identification of pertinent spectral domain optical coherence tomography features can help avoid inappropriate and delayed treatment.