家族性先天性眼球震颤患者眼底病变特点的临床观察
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武汉市卫生和计划生育委员会科研基金项目(No.WX16E05); 爱尔眼科医院集团科研基金项目(No.AF1608D1)


Clinical features of fundus diseases of familial congenital nystagmus
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Wuhan Health and Family Planning Commission Foundation Project(No.WX16E05); Aier Eye Hospital Group Foundation Project(No.AF1608D1)

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    摘要:

    目的:研究家族性先天性眼球震颤患者的眼底病变特点。

    方法:对我院就诊的家族性先天性眼球震颤3个家系患者20例40眼进行眼位、屈光状态、眼前节、眼底彩色照相、光学相干断层扫描(OCT)、视网膜电生理(ERG)和视觉诱发电位(VEP)等检查。

    结果:家系A共8例患者,均为水平型眼球震颤,其中斜视6例(伴代偿头位2例),核性白内障2例,后极性白内障2例,早产儿视网膜病变1例,高度屈光不正2例。家系B共6例患者,均为水平型眼球震颤,其中白化病3例(伴黄斑发育不良2例),高度屈光不正2例,全色盲1例,核性白内障1例。家系C共6例患者(5例水平型眼球震颤,1例旋转型眼球震颤),其中Leber先天性黑矇2例,家族性渗出性视网膜病变1例,后极性白内障2例,虹膜萎缩1例,斜视2例。

    结论:家族性先天性眼球震颤患者要进行全面的眼部检查,尽可能找出病因,改善患者视功能。

    Abstract:

    AIM: To investigate the clinical features of fundus diseases of familial congenital nystagmus.

    METHODS: Totally 40 eyes of 20 nystagmus patients from 3 congenital nystagmus families were enrolled in our study. The eye position, refractive error, anterior segment and fundus, including fundus photograph, optical coherence tomography(OCT), and visual evoked potential(VEP)were performed on them.

    RESULTS: There were 8 patients in Family A, all of which were horizontal nystagmus, in that 6 cases of strabismus(2 of which combined with compensatory head posture), 2 cases of nuclear cataract, 2 cases of posterior polar cataract, 1 case of retinopathy of prematurity, 2 cases of severe ametropia. There were 6 patients in Family B, all of which were horizontal nystagmus, in that 3 cases of albinism(2 of which combined with macular hypoplasia), 2 cases of severe ametropia, 1 case of achromatopsia, 1 case of nuclear cataract. There were 6 patients in Family C(5 of which were horizontal nystagmus and 1 rotatory nystagmus), 2 cases of Leber congenital amaurosis, 1 case of familial exudative vitreoretinopathy, 2 cases of posterior polar cataract, 1 case of iris atrophy, 2 cases of strabismus.

    CONCLUSION: We have to do detailed examinations on patients suffered from familial congenital nystagmus to understand its causes and to improve their visual functions as well as possible.

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谢小华,陈英,吕露,等.家族性先天性眼球震颤患者眼底病变特点的临床观察.国际眼科杂志, 2018,18(2):367-372.

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  • 收稿日期:2017-08-24
  • 最后修改日期:2017-12-29
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  • 在线发布日期: 2018-01-19
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