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UNDERDIAGNOSED OPTIC DISK PIT MACULOPATHY: Spectral Domain Optical Coherence Tomography Features For Accurate Diagnosis

Iglicki, Matias, MD*; Busch, Catharina, MD; Loewenstein, Anat, MD‡,§,¶; Fung, Adrian T., MBBS, MMed, FRANZCO**,††,‡‡; Invernizzi, Alessandro, MD‡‡,§§; Mariussi, Miriana, MD¶¶; Arias, Romina, MD*; Gabrielle, Pierre-Henry, MD***; Cebeci, Zafer, MD†††; Okada, Mali, MMed‡‡‡; Nawrocki, Jerzy, MD, PhD§§§,¶¶¶; Michalewska, Zofia, MD, PhD§§§,¶¶¶; Goldstein, Michaella, MD‡,§; Barak, Adiel, MD‡,§; Zur, Dinah, MD‡,§

doi: 10.1097/IAE.0000000000002270
Original Study: PDF Only

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.

Optic disk pit maculopathy is frequently underdiagnosed and misdiagnosed in elderly patients presenting with subretinal fluid. Optical coherence tomography features can help to identify this maculopathy at early stages.

*Private Retina Service, University of Buenos Aires, Buenos Aires, Argentina;

Department of Ophthalmology, University of Leipzig, Leipzig, Germany;

Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;

§Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;

Incumbent, Sydney A. Fox Chair in Ophthalmology, Tel Aviv University, Tel Aviv, Israel;

**Department of Ophthalmology, Westmead Hospital, Sydney, New South Wales, Australia;

††Faculty of Medicine and Health Sciences, Macquarie University Hospital, Sydney, New South Wales, Australia;

‡‡Save Sight Institute, University of Sydney, Sydney, New South Wales, Australia;

§§Eye Clinic, Department of Biomedical and Clinical Science “Luigi Sacco,” Luigi Sacco Hospital, University of Milan, Milan, Italy;

¶¶Favaloro University Hospital, Buenos Aires, Argentina;

***Department of Ophthalmology, DIJON University Hospital, Burgundy, France;

†††Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey;

‡‡‡Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia;

§§§Ophthalmic Clinic “Jasne Blonia,” Lodz, Poland; and

¶¶¶Outpatient Office N&M, Lodz, Poland.

Reprint requests: Matias Iglicki, MD, Retina Private Office, University of Buenos Aires, 525 Aguirre Street, 3rd floor, Apartment A, Buenos Aires 1414, Argentina; e-mail: matiasiglicki@gmail.com

None of the authors has any financial/conflicting interests to disclose.

M. Iglicki and C. Busch have contributed equally.

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© 2018 by Ophthalmic Communications Society, Inc.