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

Abstract

Introduction: The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft.

Case report: A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins) and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen(®) XL (Reichert Technologies, Depew, NY, USA) handheld applanation tonometer revealed that her intraocular pressure was 11-22 mmHg (Oculus Dexter) and 8 mmHg (Oculus Sinister). B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15-16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound biomicroscopy revealed that almost all directions were open except for the peripheral anterior synechia. Since magnetic resonance imaging revealed ventriculomegaly associated with an interhemispheric cyst at birth, a ventriculoperitoneal shunt was inserted at 12 days of age. At 25 months of age, her condition suddenly deteriorated due to occlusion of the ventricular shunt catheter, and she died 5 days later. In this patient, amniotic band syndrome was presumed to be the primary cause due to the clinical findings.

Conclusion: We experienced a case of optic-nerve hypoplasia and anterior segment abnormality that occurred with facial cleft. The cause of these abnormalities is unclear, yet amniotic band syndrome is a possible candidate.

Keywords: amniotic band syndrome; facial cleft; optic-nerve hypoplasia.

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.