title: A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology, Osaka Medical College, Takatsuki City.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Miyake
authors.affiliation: Department of Ophthalmology, Osaka Medical College, Takatsuki City.
authors.forename: Shota
authors.initials: S
authors.lastname: Kojima
authors.affiliation: Nakano Eye Clinic of Kyoto Medical Co-operative, Kyoto.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Sugiyama
authors.affiliation: Department of Ophthalmology, Osaka Medical College, Takatsuki City.
authors.forename: Mari
authors.initials: M
authors.lastname: Ueki
authors.affiliation: Department of Ophthalmology, Osaka Medical College, Takatsuki City.
authors.forename: Jun
authors.initials: J
authors.lastname: Sugasawa
authors.affiliation: Department of Ophthalmology, Osaka Medical College, Takatsuki City.
authors.forename: Hidehiro
authors.initials: H
authors.lastname: Oku
authors.affiliation: Department of Ophthalmology, Osaka Medical College, Takatsuki City.
authors.forename: Kensuke
authors.initials: K
authors.lastname: Tajiri
authors.affiliation: Department of Plastic and Reconstructive Surgery, Osaka Medical College, Takatsuki City.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Shigemura
authors.affiliation: Department of Plastic and Reconstructive Surgery, Osaka Medical College, Takatsuki City.
authors.forename: Koichi
authors.initials: K
authors.lastname: Ueda
authors.affiliation: Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Harada
authors.affiliation: Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City.
authors.forename: Mami
authors.initials: M
authors.lastname: Yamasaki
authors.affiliation: Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City.
authors.forename: Takumi
authors.initials: T
authors.lastname: Yamanaka
authors.affiliation: Department of Radiological Science, International University of Health and Welfare, Graduate School, Fukuoka, Japan.
authors.forename: Hidetsuna
authors.initials: H
authors.lastname: Utsunomiya
authors.affiliation: Department of Ophthalmology, Osaka Medical College, Takatsuki City.
authors.forename: Tsunehiko
authors.initials: T
authors.lastname: Ikeda
keywords: amniotic band syndrome; facial cleft; optic-nerve hypoplasia