PMC4965226_01
Facial images of the female infant with optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft.. Notes: (A) Facial clefts can be seen from the lip to the alar of the nose. A bony cleft that extends from the left orbital roof and the cleft of the left upper lip, and a complete cleft of the right side of the face that extends from the lip to the forehead near the eyebrow can be seen. An amniotic-like band can be seen from the cranial cleft end to the hair line of the forehead (arrows). (B) Photograph of the patient's right eye opened by pulling of the upper eyelid showing apparent blepharophimosis. (C) Photograph of the patient's left eye showing a notch existing in the left lower eyelid (arrow).
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There was an amniotic-like band from the cranial cleft end to the hair line of the forehead (Tessier Nos. 2 and 12) (Figure 1A). The first eye examination revealed severe blepharophimosis in the right eye (Figure 1A and B) and a notch in the left lower eyelid (Figure 1C); however, there was no eyelid closure disorder in both eyes.
Axial (A) and sagittal (B) T2-weighted magnetic resonance images reveal a huge interhemispheric cyst-associated ventriculomegaly and agenesis of the corpus callosum.
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Magnetic resonance imaging revealed an interhemispheric cyst associated with ventriculomegaly and agenesis of the corpus callosum (Figure 2A and B).
Image showing the anterior segment of the right eye, with inferior to central corneal opacity (subepithelial to deep stroma) with vascularization (arrows) in the corneal stroma, pseudopterygium (white arrowhead), downward corectopia, and anterior synechia (black arrowhead).
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Tono-Pen  XL and 11-14 mmHg OD and 5-6 mmHg OS by Perkins Tonometer . The right-eye cornea had opacity (subepithelial to deep stroma) from the inferior to central area with vascularization in the corneal stroma, pseudopterygium, downward corectopia, and anterior synechia (Figure 3).
(A) Fundus image of the patient's right eye. The DM/DD ratio was ~4.0. (B) Enlarged view of the right optic-nerve disc showing a tilted disc and a double-ring sign (arrows). (C) Left-eye fundus image. The DM/DD ratio was ~2.8.. Abbreviation: DM/DD, the distance between the centers of the disc and the macula/disc diameter.
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Fundus examination revealed a tilted disc and a double-ring sign in the right eye, and the disc macula distance/disc diameter (DM/DD) ratio (ie, the ratio of the distance between the center of the optic disc and the fovea centralis to the diameter of the optic disc) was ~4.0 in the right eye (Figure 4A and B). The DM/DD ratio was ~2.8 in the left eye (Figure 4C).
(A) Gonioscopy finding and UBM images of the inferior, (B) temporal, (C) nasal, and (D) inferior sides.. Note: Gonioscopy (arrows) and UBM revealed that almost all directions were open except for the peripheral anterior synechia.. Abbreviation: UBM, ultrasound biomicroscopy.
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After a canthotomy was performed, gonioscopy revealed that almost all directions were open except for the peripheral anterior synechia in the right eye (Figure 5A). Ultrasound biomicroscopy revealed that almost all directions were open except for the peripheral anterior synechia in the right eye (Figure 5B-D).