A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

Figures & data

Figure 1 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).

Figure 2 Axial (A) and sagittal (B) T2-weighted magnetic resonance images reveal a huge interhemispheric cyst-associated ventriculomegaly and agenesis of the corpus callosum.

Figure 3 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).

Figure 4 (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.

Figure 5 (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.