A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft
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 wit...
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| Veröffentlicht in: | International medical case reports journal 2016-01, Vol.9, p.207-212 |
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| creator | Miyake, Tomoko Kojima, Shota Sugiyama, Tetsuya Ueki, Mari Sugasawa, Jun Oku, Hidehiro Tajiri, Kensuke Shigemura, Yuka Ueda, Koichi Harada, Atsuko Yamasaki, Mami Yamanaka, Takumi Utsunomiya, Hidetsuna Ikeda, Tsunehiko |
| description | 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.
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.
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. |
| doi_str_mv | 10.2147/IMCRJ.S99237 |
| format | Article |
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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.
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.</description><identifier>ISSN: 1179-142X</identifier><identifier>EISSN: 1179-142X</identifier><identifier>DOI: 10.2147/IMCRJ.S99237</identifier><identifier>PMID: 27524922</identifier><language>eng</language><publisher>New Zealand: Dove Medical Press Limited</publisher><subject>Age ; Case Report ; Case reports ; Classification ; Cornea ; Cysts ; Mouth diseases ; Optic nerve ; Optic nerve diseases ; Pregnancy ; Risk factors</subject><ispartof>International medical case reports journal, 2016-01, Vol.9, p.207-212</ispartof><rights>COPYRIGHT 2016 Dove Medical Press Limited</rights><rights>2016. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2016 Miyake et al. This work is published and licensed by Dove Medical Press Limited 2016</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c547t-414d62e197681d6c58df9e7838ce532fc269ccffcab85b8e8b8c53497479fb1a3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965226/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965226/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,3848,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27524922$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Miyake, Tomoko</creatorcontrib><creatorcontrib>Kojima, Shota</creatorcontrib><creatorcontrib>Sugiyama, Tetsuya</creatorcontrib><creatorcontrib>Ueki, Mari</creatorcontrib><creatorcontrib>Sugasawa, Jun</creatorcontrib><creatorcontrib>Oku, Hidehiro</creatorcontrib><creatorcontrib>Tajiri, Kensuke</creatorcontrib><creatorcontrib>Shigemura, Yuka</creatorcontrib><creatorcontrib>Ueda, Koichi</creatorcontrib><creatorcontrib>Harada, Atsuko</creatorcontrib><creatorcontrib>Yamasaki, Mami</creatorcontrib><creatorcontrib>Yamanaka, Takumi</creatorcontrib><creatorcontrib>Utsunomiya, Hidetsuna</creatorcontrib><creatorcontrib>Ikeda, Tsunehiko</creatorcontrib><title>A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft</title><title>International medical case reports journal</title><addtitle>Int Med Case Rep J</addtitle><description>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.
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.
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.</description><subject>Age</subject><subject>Case Report</subject><subject>Case reports</subject><subject>Classification</subject><subject>Cornea</subject><subject>Cysts</subject><subject>Mouth diseases</subject><subject>Optic nerve</subject><subject>Optic nerve diseases</subject><subject>Pregnancy</subject><subject>Risk factors</subject><issn>1179-142X</issn><issn>1179-142X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNptkt9vFCEQxzdGY5vaN58NiYlP7nmw7AIvJpeL1poaE38kPklYdrilYWELXM3990Wv1rtECBlgPvPNMExVPcfLBcGUvbn8tP7ycfFVCNKwR9UpxkzUmJIfjw_2J9V5StfLMhpBGGZPqxPCWkIFIafVzxXSKgEKBoU5W117iLeAxt0cZqeSVUj5oawM0YaIEmwm8Bmp3oc4KWfzDqmUgrYqw4B-2Twio8rJIe3A5GfVE6NcgvN7e1Z9f__u2_pDffX54nK9uqp1S1muKaZDRwAL1nE8dLrlgxHAeMM1tA0xmnRCa2O06nnbc-A9121DBaNMmB6r5qx6u9edt_0Egy45RuXkHO2k4k4GZeWxx9tRbsKtpKJrCemKwMt7gRhutpCyvA7b6EvOkhBS6tvxdvmP2igH0noTipiebNJyVdxEdKXEhVr8hypzgMnq4MHYcn8U8OogYATl8piC22YbfDoGX-9BHUNKEczDC_FS_m4I-ach5L4hCv7isCoP8N_vb-4AvdywpA</recordid><startdate>20160101</startdate><enddate>20160101</enddate><creator>Miyake, Tomoko</creator><creator>Kojima, Shota</creator><creator>Sugiyama, Tetsuya</creator><creator>Ueki, Mari</creator><creator>Sugasawa, Jun</creator><creator>Oku, Hidehiro</creator><creator>Tajiri, Kensuke</creator><creator>Shigemura, Yuka</creator><creator>Ueda, Koichi</creator><creator>Harada, Atsuko</creator><creator>Yamasaki, Mami</creator><creator>Yamanaka, Takumi</creator><creator>Utsunomiya, Hidetsuna</creator><creator>Ikeda, Tsunehiko</creator><general>Dove Medical Press Limited</general><general>Taylor & Francis Ltd</general><general>Dove Medical Press</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>5PM</scope></search><sort><creationdate>20160101</creationdate><title>A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft</title><author>Miyake, Tomoko ; 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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.
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.
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.</abstract><cop>New Zealand</cop><pub>Dove Medical Press Limited</pub><pmid>27524922</pmid><doi>10.2147/IMCRJ.S99237</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | International medical case reports journal, 2016-01, Vol.9, p.207-212 |
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| source | DOVE Medical Press Journals; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; PubMed Central |
| subjects | Age Case Report Case reports Classification Cornea Cysts Mouth diseases Optic nerve Optic nerve diseases Pregnancy Risk factors |
| title | A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft |
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