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

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 ultrasou