无交叉视谱：先天性视交叉交叉减少。
The achiasmia spectrum: congenitally reduced chiasmal decussation.
作者信息
Sami D A, Saunders D, Thompson D A, Russell-Eggitt I M, Nischal K K, Jeffrey G, Dattani M, Clement R A, Liasis A, Taylor D S
机构信息
Visual Sciences Unit, Institute of Child Health University College, London WC1N 1EH, UK.
出版信息
Br J Ophthalmol. 2005 Oct;89(10):1311-7. doi: 10.1136/bjo.2005.068171.
AIM
To describe the clinical spectrum of achiasmia, a congenital disorder of reduced relative decussation at the optic chiasm.
METHODS
A retrospective case note and patient review of nine children (four boys). Achiasmia was defined by the combination of a characteristic asymmetry of the monocular visual evoked potential (VEP) response to flash and neuroimaging showing reduced chiasmal size.
RESULTS
Three of the children had an associated skull base encephalocele with agenesis of the corpus callosum. In two patients achiasmia was associated with septo-optic dysplasia. Three patients had no neuroimaging abnormalities other than reduced chiasmal size and have no known pituitary dysfunction. One child had multiple physical deformities but the only brain imaging abnormality was reduced chiasmal size.
CONCLUSIONS
Some children with disorders of midline central nervous system development, including septo-optic dysplasia and skull base encephaloceles, have congenitally reduced chiasmal decussation. Reduced relative decussation may co-exist with overall chiasmal hypoplasia. Children with an apparently isolated chiasmal decussation deficit may have other subtle neurological findings, but our clinical impression is that most of these children function well.
目的
描述视交叉发育不全（一种视交叉处相对交叉减少的先天性疾病）的临床谱。
方法
对9名儿童（4名男孩）进行回顾性病例记录和患者评估。视交叉发育不全的定义为单眼闪光视觉诱发电位（VEP）反应的特征性不对称与神经影像学显示视交叉尺寸减小相结合。
结果
3名儿童伴有颅底脑膨出和胼胝体发育不全。2例患者的视交叉发育不全与视隔发育不良有关。3例患者除视交叉尺寸减小外无神经影像学异常，且无已知的垂体功能障碍。1名儿童有多种身体畸形，但唯一的脑成像异常是视交叉尺寸减小。
结论
一些中线中枢神经系统发育障碍的儿童，包括视隔发育不良和颅底脑膨出，先天性视交叉交叉减少。相对交叉减少可能与视交叉整体发育不全并存。明显孤立的视交叉交叉缺陷的儿童可能有其他细微的神经学表现，但我们的临床印象是这些儿童大多功能良好。
Zotero 插件