WordNet
- be cross-eyed; have a squint or strabismus
- cross ones eyes as if in strabismus; "The children squinted so as to scare each other" (同)squinch
- partly close ones eyes, as when hit by direct blinding light; "The driver squinted as the sun hit his windshield"
- the act of squinting; looking with the eyes partly closed
- abnormal alignment of one or both eyes (同)squint
PrepTutorEJDIC
- 斜視,やぶにらみ / 《英話》一べつ,一目 / 斜視である(進行形にできない) / (…を,を通して)横目で見る;(まぶしいとき,狙いをつけるときなどに)細目で見る《+『at』(『through』)+『名』》 / 〈目〉‘を'細める
- 斜視,やぶにらみ
UpToDate Contents
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- 1. 小児における斜視の評価およびマネージメント evaluation and management of strabismus in children
- 2. 小児における第4脳神経（滑車神経）麻痺 fourth cranial nerve trochlear nerve palsy in children
- 3. 小児における水平斜視の原因 causes of horizontal strabismus in children
- 4. 小児における垂直斜視の原因 causes of vertical strabismus in children
- 5. 小児における第3脳神経（動眼神経）麻痺 third cranial nerve oculomotor nerve palsy in children
English Journal
- Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum.
- Jamsheer A1, Sowińska-Seidler A2, Socha M2, Stembalska A3, Kiraly-Borri C4, Latos-Bieleńska A5.Author information 1Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland. Electronic address: jamsheer@wp.pl.2Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.3Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.4Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Subiaco, Australia.5Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.AbstractOculodentodigital dysplasia (ODDD) is a clinically variable genetic disorder caused by mutations of the GJA1 gene, predominantly inherited in an autosomal dominant fashion. In rare cases ODDD can also exhibit autosomal recessive mode of inheritance. The phenotype of ODDD comprises craniofacial (short and narrow palpebral fissure, thin, narrow nose with hypoplastic alae nasi), dental (oligodontia, hypoplastic enamel), and digital abnormalities (syndactyly of finger 4/5, hypoplastic phalanges). Ocular manifestation is typical and involves microphthalmia, microcornea, glaucoma, congenital malformations of iris or vitreous, ectopic pupils or strabismus. To date, only 67 GJA1 mutations have been described to underlie ODDD and most of them (i.e. 97%) represent missense substitutions. In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c.317T>G (p. L106R), c.G139C (p.D47H), and c.C257A (p.S86Y). The first two mutations were inherited from an affected parent, whereas the latter one occurred de novo. The mutations affect highly conserved amino acid residues located in the different portions of the GJA1 protein. Our report broadens the spectrum of probably pathogenic mutations associated with ODDD phenotype and demonstrates that the amino acid substitutions at highly conserved positions 47, 86, 106 may affect protein functioning and lead to the development of this syndrome. Together with molecular data, we provide a brief clinical description of the affected individuals.
- Gene.Gene.2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6.
- Oculodentodigital dysplasia (ODDD) is a clinically variable genetic disorder caused by mutations of the GJA1 gene, predominantly inherited in an autosomal dominant fashion. In rare cases ODDD can also exhibit autosomal recessive mode of inheritance. The phenotype of ODDD comprises craniofacial (shor
- PMID 24508941
- Tectal pineal cyst in a 1-year-old girl.
- Plowey ED1, Vogel H2, Yeom KW3, Jung H4, Chao K4, Edwards MS4.Author information 1Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305. Electronic address: ploweyed@stanford.edu.2Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305; Department of Neurosurgery, Stanford University School of Medicine, Stanford, CA 94305.3Department of Radiology, Stanford University School of Medicine, Stanford, CA 94305.4Department of Neurosurgery, Stanford University School of Medicine, Stanford, CA 94305.AbstractGlial cysts of the pineal gland can frequently be found in adults and children, but only rarely do they enlarge to become clinically relevant. We report a unique presentation of a pineal cyst in the midbrain tectum of a 16-month-old girl who initially presented with ptosis and strabismus. Preoperative imaging studies and intraoperative findings revealed no continuity between the tectal cyst and the pineal gland proper. We surmise that this tectal pineal cyst may have arisen from duplicated pineal gland tissue.
- Human pathology.Hum Pathol.2014 Mar;45(3):653-6. doi: 10.1016/j.humpath.2013.10.002. Epub 2013 Oct 18.
- Glial cysts of the pineal gland can frequently be found in adults and children, but only rarely do they enlarge to become clinically relevant. We report a unique presentation of a pineal cyst in the midbrain tectum of a 16-month-old girl who initially presented with ptosis and strabismus. Preoperati
- PMID 24411061
Japanese Journal
- Time Trade-off Utility Analysis for Surgical Intervention in Comitant Strabismus, Glaucoma, and Cataract
- Kishimoto Fumiko,Naito Tomoko,Hasebe Satoshi,Ohtsuki Hiroshi
- Acta Medica Okayama 66(3), 191-201, 2012-06
- … The subjects were 127 patients aged 40-85 years who were surgically treated between January 2008 and March 2010, including 26 patients with glaucoma, 50 with cataracts, and 51 with comitant strabismus. … The mean value (SD) of the utility gain was 0.096 (0.105) for glaucoma, 0.101 (0.105) for comitant strabismus, and 0.167 (0.237) for unilateral and 0.245 (0.167) for bilateral cataracts, indicating significant postoperative improvements in the utility value. …
- NAID 120004247095
- 共同性水平斜視(治療の定量を含めて) (特集 眼位・眼球運動異常の診断と治療)
- 高橋 眞美,杉山 能子
- 眼科 54(4), 345-349, 2012-04
- NAID 40019302657
Related Links
- comitant strabismus. See concomitant strabismus. strabismus [strah-biz´mus] deviation of the eye that the patient cannot overcome; the visual axes assume a position relative to each other different from that required by the ...
- Etiology Comitant strabismus can be congenital or acquired. In the absence of obvious structural anomalies of the eye and brain, the etiology remains unclear. It is generally considered to be the result of a complex ...
Related Pictures
★リンクテーブル★
| リンク元 | 「phoria」「共同性斜視」「squint」 |
| 拡張検索 | 「noncomitant strabismus」 |
「phoria」
「共同性斜視」
「squint」