International Medical Case Reports Journal (Jul 2016)

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

  • Miyake T,
  • Kojima S,
  • Sugiyama T,
  • Ueki M,
  • Sugasawa J,
  • Oku H,
  • Tajiri K,
  • Shigemura Y,
  • Ueda K,
  • Harada A,
  • Yamasaki M,
  • Yamanaka T,
  • Utsunomiya H,
  • Ikeda T

Journal volume & issue
Vol. 2016, no. Issue 1
pp. 207 – 212

Abstract

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Tomoko Miyake,1 Shota Kojima,1 Tetsuya Sugiyama,2 Mari Ueki,1 Jun Sugasawa,1 Hidehiro Oku,1 Kensuke Tajiri,1 Yuka Shigemura,3 Koichi Ueda,3 Atsuko Harada,4 Mami Yamasaki,4 Takumi Yamanaka,4 Hidetsuna Utsunomiya,5 Tsunehiko Ikeda1 1Department of Ophthalmology, Osaka Medical College, Takatsuki City, 2Nakano Eye Clinic of Kyoto Medical Co-operative, Kyoto, 3Department of Plastic and Reconstructive Surgery, Osaka Medical College, Takatsuki City, 4Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City, 5Department of Radiological Science, International University of Health and Welfare, Graduate School, Fukuoka, Japan 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: facial cleft, optic-nerve hypoplasia, amniotic band syndrome

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