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Background <p>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).</p> Case presentation <p>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.</p> Conclusions <p>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.</p>

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

  • 期刊论文

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  • 发表日期：

    2026年3月4日

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  • İsa Yuvacı,
  • Muhammed Muaz Osmanoğlu

摘要

Background

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).

Case presentation

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.

Conclusions

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.