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D. K. Isaacs, R. Josephberg; Multiple Bilateral Optic Nerve Pits with Multiple Colobomas and Correlation with Imaging Using Fourier Domain Optical Coherence Tomography. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3255.
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To report the unique physical examination and imaging findings of multiple optic nerve (ON) pits, bilaterally, in addition to the presence of multiple colobomas, in a 5 year old girl with 1-year follow-up.
Past medical history (PMH), review of systems (ROS), ophthalmologic exam with biomicroscopy, stereo fundus photography (SFP), and Fourier Domain Optical Coherence Tomography (FDOCT) were performed.
Unremarkable PMH and ROS. Best corrected visual acuity 20/20 OU. Two ON pits in each ON with multiple optic nerve head and retinal colobomas were found. FDOCT revealed ON depression and delineated retinal nerve fiber layer thinning at the sites of pathology.
FDOCT demonstrates detailed pathologic findings that correlate with findings from slit lamp biomicroscopy and SFP. Imaging can demonstrate disease predilection. The presence of multiple bilateral ON pits coinciding with multiple colobomas is an interesting finding that has not been reported previously.
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