A unique case of unilateral optic pit and coloboma without macular pathology: an asymptomatic 42-year-old female

To report a rare case of unilateral hybrid optic disc anomaly characterized by the coexistence of optic disc pit and optic disc coloboma in the absence of maculopathy, evaluated with multimodal imaging including optical coherence tomography angiography (OCTA). A 42-year-old asymptomatic woman was found to have coexisting optic disc pit and temporal optic disc coloboma in the right eye. Visual acuity was normal, and no structural or clinical evidence of maculopathy was detected. Optical coherence tomography (OCT) demonstrated preserved macular architecture. Fluorescein angiography (FFA) showed normal vascular filling without leakage. Optical coherence tomography angiography (OCTA) revealed a hypointense area at the base of the pit and localized peripapillary capillary rarefaction. The absence of corresponding FFA abnormalities suggests that the OCTA hypointensity may reflect signal attenuation rather than true ischemia. Hybrid optic disc anomalies are exceedingly rare, and the absence of maculopathy in this setting is exceptional. To the best of our knowledge, this is the first reported case of a hybrid optic disc anomaly without associated maculopathy, as well as the first evaluated using OCTA. Multimodal imaging, including OCT, OCTA, and FFA, is essential for accurate characterization, and OCTA findings should be interpreted cautiously in deeply excavated lesions.

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Publication Details

Journal
BMC Ophthalmology
Published
2026-03-04
DOI
https://doi.org/10.1186/s12886-026-04698-9
Primary Topic
Retinal and Macular Surgery
Type
article
Field-Weighted Citation Impact
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article

A unique case of unilateral optic pit and coloboma without macular pathology: an asymptomatic 42-year-old female

İ̇sa Yuvacı, Muhammed Muaz Osmanoğlu
BMC Ophthalmology
Retinal and Macular Surgery
article

A unique case of unilateral optic pit and coloboma without macular pathology: an asymptomatic 42-year-old female

İ̇sa Yuvacı, Muhammed Muaz Osmanoğlu
article en

Abstract

To report a rare case of unilateral hybrid optic disc anomaly characterized by the coexistence of optic disc pit and optic disc coloboma in the absence of maculopathy, evaluated with multimodal imaging including optical coherence tomography angiography (OCTA). A 42-year-old asymptomatic woman was found to have coexisting optic disc pit and temporal optic disc coloboma in the right eye. Visual acuity was normal, and no structural or clinical evidence of maculopathy was detected. Optical coherence tomography (OCT) demonstrated preserved macular architecture. Fluorescein angiography (FFA) showed normal vascular filling without leakage. Optical coherence tomography angiography (OCTA) revealed a hypointense area at the base of the pit and localized peripapillary capillary rarefaction. The absence of corresponding FFA abnormalities suggests that the OCTA hypointensity may reflect signal attenuation rather than true ischemia. Hybrid optic disc anomalies are exceedingly rare, and the absence of maculopathy in this setting is exceptional. To the best of our knowledge, this is the first reported case of a hybrid optic disc anomaly without associated maculopathy, as well as the first evaluated using OCTA. Multimodal imaging, including OCT, OCTA, and FFA, is essential for accurate characterization, and OCTA findings should be interpreted cautiously in deeply excavated lesions.

BMC Ophthalmology
Sakarya University (TR)
Openalex Percentile: Top 35%
Retinal and Macular Surgery
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