背景:Mowat-Wilson综合征(MWS)是一种罕见的遗传性疾病,可导致多种先天性异常,包括面部畸形,内脏器官的结构异常,功能障碍,and,虽然不太常见,眼部异常。呈现患有MWS和眼睛异常的孩子。
方法:一个3岁男孩在怀孕37周时出生,具有畸形特征,神经发育障碍,基因证实的MWS,眼球震颤,斜视,怀疑先天性青光眼.在全身麻醉下进行眼科检查;还进行了眼球超声和电生理检查(闪光视觉诱发电位)。
结果:检查显示眼球震颤,双眼瞳孔对光的正常反应,和正常的眼压,也就是说,17和18mmHg在右眼和左眼,分别。右眼角膜厚度为606µm,左眼为588µm。房角镜检查显示Schwalbe线在角膜缘(后胚胎毒素)前方移位。眼底检查显示粉红色视盘,杯盘比为0.5,黄斑色素重新聚集,和正常的血管。闪光视觉诱发电位:P2潜伏期正常。从左半球的P2振幅减少到50%,右半球的P2振幅正常。
结论:患有遗传决定的先天性异常的儿童需要定期眼科检查,以准确评估眼睛并确定视觉功能发育的前景。
BACKGROUND: Mowat-Wilson syndrome (MWS) is a rare genetic condition resulting in multiple congenital anomalies, including facial dysmorphism, structural anomalies of the internal organs, functional disorders, and, although less commonly, ocular abnormalities. To present a child with MWS and eye abnormalities.
METHODS: A 3-year-old boy was born at 37 weeks of pregnancy with dysmorphic features, neurodevelopmental disorders, genetically confirmed MWS, nystagmus, strabismus, and suspicion of congenital glaucoma. Ophthalmic examination was carried out under general anesthesia; eyeball ultrasound and electrophysiological examination (flash visual evoked potentials) were also performed.
RESULTS: The examinations revealed nystagmus, a normal response of pupils to light in both eyes, and normal intraocular pressure, that is, 17 and 18 mm Hg in the right and left eye, respectively. Corneal thickness was 606 µm in the right eye and 588 µm in the left eye. Gonioscopy revealed displacement of Schwalbe line anterior to the limbus of the cornea (posterior embryotoxon). Fundus examination revealed a pink optic disk with a cup-to-disc ratio of 0.5, macular pigment regrouping, and normal blood vessels. Flash visual evoked potentials: P2 latency was normal. P2 amplitude from the left hemisphere was reduced to 50%, and P2 amplitude over the right hemisphere was normal.
CONCLUSIONS: Children with genetically determined congenital anomalies need regular ophthalmic checkups to accurately assess the eye and determine the prospects of vision function development.