无视交叉伴水平性眼球震颤。

Absent optic chiasm presenting with horizontal nystagmus.

作者信息

Salchow Daniel J, Kohlhase Jürgen, Miller Marijean, Kadom Nadja, FitzGibbon Edmond J, Caruso Rafael C, Brooks Brian P

机构信息

Department of Ophthalmology, Yale University School of Medicine, New Haven, CT 06510, USA.

出版信息

J Pediatr Ophthalmol Strabismus. 2010 May-Jun;47(3):187-91. doi: 10.3928/01913913-20090818-08. Epub 2010 May 20.

DOI:10.3928/01913913-20090818-08

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11473097/

Abstract

A female infant with horizontal nystagmus and normal ophthalmic examination had isolated absence of the optic chiasm on magnetic resonance imaging. Eye movements were recorded on video and reviewed. Horizontal nystagmus without see-saw nystagmus was observed. Visual evoked potential showed inter-hemispheric asymmetry compatible with the absence of crossing chiasmal fibers. Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome.

摘要

一名患有水平性眼球震颤且眼科检查正常的女婴，磁共振成像显示其视交叉单独缺如。对眼球运动进行了视频记录并复查。观察到仅有水平性眼球震颤，未见跷跷板样眼球震颤。视觉诱发电位显示半球间不对称，与交叉性视交叉纤维缺如相符。该患者的全身异常包括唇裂、耳前皮肤赘生物、宽拇指和肛门前置，提示为汤姆斯-布罗克综合征。

相似文献

1

Absent optic chiasm presenting with horizontal nystagmus.

J Pediatr Ophthalmol Strabismus. 2010 May-Jun;47(3):187-91. doi: 10.3928/01913913-20090818-08. Epub 2010 May 20.

2

Non-decussating retinal-fugal fibre syndrome. An inborn achiasmatic malformation associated with visuotopic misrouting, visual evoked potential ipsilateral asymmetry and nystagmus.

Brain. 1995 Oct;118 ( Pt 5):1195-216. doi: 10.1093/brain/118.5.1195.

3

See-saw nystagmus and congenital nystagmus identified in the non-decussating retinal-fugal fiber syndrome.

Strabismus. 2001 Sep;9(3):143-63. doi: 10.1076/stra.9.3.143.6761.

4

Ocular motility anomalies in developmental misdirection of the optic chiasm.

Am J Ophthalmol. 1992 Jan 15;113(1):86-95. doi: 10.1016/s0002-9394(14)75759-9.

5

A girl without a chiasm: electrophysiologic and MRI evidence for the absence of crossing optic nerve fibers in a girl with a congenital nystagmus.

J Neuroophthalmol. 2001 Mar;21(1):26-9. doi: 10.1097/00041327-200103000-00007.

6

Acquired monocular nystagmus in chiasmal glioma-a video-oculographic study.

J AAPOS. 2019 Jun;23(3):185-187. doi: 10.1016/j.jaapos.2019.01.004. Epub 2019 Feb 5.

7

Chiasmal crossing defects in disorders of binocular vision.

Eye (Lond). 1996;10 ( Pt 2):222-32. doi: 10.1038/eye.1996.50.

8

Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs.

Neuropediatrics. 2003 Aug;34(4):219-23. doi: 10.1055/s-2003-42214.

9

Visual Function, Brain Imaging, and Physiological Factors in Children With Asymmetric Nystagmus due to Chiasmal Gliomas.

Pediatr Neurol. 2019 Aug;97:30-37. doi: 10.1016/j.pediatrneurol.2019.03.021. Epub 2019 Mar 28.

10

Congenital absence of optic chiasm: demonstration of an uncrossed visual pathway using monocular flash visual evoked potentials.

Doc Ophthalmol. 2006 Jul;113(1):1-4. doi: 10.1007/s10633-006-9005-1. Epub 2006 Aug 12.

本文引用的文献

1

Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant.

Acta Ophthalmol Scand. 2006 Feb;84(1):140-4. doi: 10.1111/j.1600-0420.2005.00523.x.

2

The achiasmia spectrum: congenitally reduced chiasmal decussation.

Br J Ophthalmol. 2005 Oct;89(10):1311-7. doi: 10.1136/bjo.2005.068171.

3

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.

Am J Med Genet A. 2004 Feb 15;125A(1):102-4. doi: 10.1002/ajmg.a.20484.

4

Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs.

Neuropediatrics. 2003 Aug;34(4):219-23. doi: 10.1055/s-2003-42214.

5

A girl without a chiasm: electrophysiologic and MRI evidence for the absence of crossing optic nerve fibers in a girl with a congenital nystagmus.

J Neuroophthalmol. 2001 Mar;21(1):26-9. doi: 10.1097/00041327-200103000-00007.

6

Visual-evoked potential evidence of chiasmal hypoplasia.

Ophthalmology. 1999 Dec;106(12):2354-61. doi: 10.1016/S0161-6420(99)90539-0.

7

Townes-Brocks syndrome.

J Med Genet. 1999 Feb;36(2):89-93.

8

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238.

9

The congenital and see-saw nystagmus in the prototypical achiasma of canines: comparison to the human achiasmatic prototype.

Vision Res. 1998 Jun;38(11):1629-41. doi: 10.1016/s0042-6989(97)00337-4.

10

Medaka spalt acts as a target gene of hedgehog signaling.

Development. 1997 Aug;124(16):3147-56. doi: 10.1242/dev.124.16.3147.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。