VACTERL 综合征中的先天性视交叉缺如和跷跷板眼球震颤。
Congenital achiasma and see-saw nystagmus in VACTERL syndrome.
机构信息
Department of Ophthalmology, Stanford University School of Medicine, Stanford, California, USA.
出版信息
J Neuroophthalmol. 2010 Mar;30(1):45-8. doi: 10.1097/WNO.0b013e3181c28fc0.
Abstract
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.
摘要
一名 29 岁男性，患有椎体缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾脏缺陷和肢体缺陷（VACTERL），出现头痛、畏光和眼球震颤恶化。他的视力和视野接近正常，无立体视觉，眼球震颤呈跷跷板样。脑部 MRI 显示视交叉的残余组织很薄，但视神经大小正常。单眼视觉刺激时的功能 MRI 显示枕叶皮质的视觉诱发电位没有交叉，证实了视交叉缺失。这些发现以前在 VACTERL 中没有报道过。
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