Congenital achiasma and see-saw nystagmus in VACTERL syndrome.
Congenital achiasma and see-saw nystagmus in VACTERL syndrome.
复制标题
VACTERL 综合征中的先天性视交叉和拉锯式眼球震颤。
DOI：
10.1097/wno.0b013e3181c28fc0
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发表时间：
2010
期刊：
影响因子：
--
通讯作者：
Liao,YapingJoyce
中科院分区：
文献类型：
--
作者：
Prakash,Saurabh;Dumoulin,SergeO;Fischbein,Nancy;Wandell,BrianA;Liao,YapingJoyce
一名 29 岁男性，患有脊椎缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾缺陷和肢体缺陷 (VACTERL)，表现为头痛、畏光和眼球震颤恶化。他的视力和视野接近正常，缺乏立体视觉，并伴有拉锯式眼球震颤。脑部核磁共振显示视交叉有薄弱的残余物，但视神经大小正常。单眼视觉刺激期间的功能性 MRI 显示枕叶皮质中视觉诱发反应不交叉，证实了视交叉。这些发现以前从未在 VACTERL 中报道过。
A 29-year-old man with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, and limb defects (VACTERL) presented with headache, photophobia, and worsening nystagmus. He had near-normal visual acuity and visual fields, absent stereopsis, and see-saw nystagmus. Brain MRI revealed a thin remnant of the optic chiasm but normal-sized optic nerves. Functional MRI during monocular visual stimulation demonstrated non-crossing of the visual evoked responses in the occipital cortex, confirming achiasma. These findings have not previously been reported in VACTERL.