PMC7395399_01
Color fundus photography of both eyes. The right optic disc (a) has a central funnel-shaped excavation, gliosis, peripapillary atrophy, and a radial spoke-like vascular pattern. The left optic disc (b) is normal
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Fig1
Posterior segment examination showed a centrally excavated optic disc with associated hypopigmented glial tuft, peripapillary chorioretinal atrophy, and radial spoke-like vascular pattern consistent with MGDA OD (Fig. 1). The OS posterior segment was unremarkable (Fig. 1).
Brain magnetic resonance imaging and computerized tomography. Sagittal T2 (a and b), sagittal post-contrast T1 (c) weighted images, and sagittal non-contrast CT (d) of the brain through midline demonstrate a bony defect at the floor of the sella with herniation of cerebrospinal fluid through the defect into the sphenoid sinuses consistent with a base of skull encephalocele. There is also evidence of absence of the distal body, splenium, and rostrum of the corpus callosum consistent with callosal dysgenesis. The pituitary gland, infundibulum, and optic chiasm were not well visualized raising concern for other associated midline developmental abnormalities
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Fig2
The pituitary gland, infundibulum and optic chiasm were not well visualized raising concern for other associated midline developmental abnormalities (Fig. 2).