先天性眼球震颤的临床特征

Clinical characteristics of congenital nystagmus

背景先天性眼球震颤是严重影响患者视觉功能的眼科疾病，但目前对其临床特征完整描述的相关报道尚少见。目的分析先天性眼球震颤的临床特征。方法采用回顾性病例分析的方法，对2005年1月至2011年8月在河南省眼科研究所就诊的先天性眼球震颤患者376例的临床资料进行归纳分析，包括患者家系的系谱分析、眼球震颤类型观察、斜视度测定、视力检查、检影验光、立体视觉测定和对患者有无震动幻觉的调查。结果本组患者就诊的年龄分布以〉5～10岁及〉15～20岁者最多，分别占24．73％和24．20％。本组患者中知觉缺陷型眼球震颤172例，运动缺陷型眼球震颤204例。先天性眼球震颤患者中最常见的遗传方式为常染色体显性遗传；水平眼球震颤为最常见的眼球震颤类型，占73．94％，其次为垂直眼球震颤，占10．11％。本组先天性眼球震颤患者中斜视的患病率为66．36％，知觉缺陷型患者与运动缺陷型患者间斜视的患病率差异无统计学意义（Ⅳ。=3．048，P=0．081）。先天性眼球震颤患者的双眼最佳矫正远视力均较差，知觉缺陷型患者双眼最佳矫正远视力明显低于先天性特发性患者（0．27±0．11VS0．50±0．13），差异有统计学意义（t=16．495，P=0．000）。先天性眼球震颤患者屈光不正的患病率为77．62％，知觉缺陷型患者与运动缺陷型患者间屈光不正患病率的差异无统计学意义（x2=1．337，P=0．248）；散光患病率为75．17％，显著高于近视和远视的患病率。65．18％的先天性眼球震颤患者无立体视觉或立体视觉值在3000＂以上，运动缺陷型患者有立体视觉者明显多于知觉缺陷型患者，差异有统计学意义（X2=7．058，P：0．008）。313例5岁以上的患者中36例有震动幻觉。结论先天性眼球震颤患者最常见的遗传方式为常染色体显性遗传；水平眼球震颤为其最常见的震颤类型；眼球震颤患者的斜视患病率高，视力和立体视觉较差，特别是知觉缺陷型患者；少数先天性眼球震颤患者有震动幻觉。

Background Congenital nystagmus is a common disease threatening visual function. The clinical description of congenital nystagmus is still not enough now. Objective The aim of this study was to report the motor and sensory characteristics of congenital nystagmus. Methods A retrospective clinical case analysis was designed. The clinical data of 376 patients with congenital nystagmus were collected. These patients were diagnosed in Henan Eye Institute fi＇om January, 2005 to August, 2011. The clinical characteristics of patients, including age, pedigree analysis, nystagmus classification, ocular alignment, visual acuity, refractive error, stereoacuity and oscillopia, was summarized. Informed consent from aIl patients and custodian were obtained. Results The age distribution of most patients was 〉5-10 years and 〉15-20 years,with the percentage 24.73% and 24.20% ,respectively. Of 376 patients,sensory defect nystagmus was 172 cases,and that of motor sensory defect was 204 eases. The most common inheritance pattern was autosomal dominant. Conjugate uniplanar horizontal oscillations were found in 73.94% patients,and strabismus was found in 66.36% in this study. Sensory defected subjects did not show a statistically significantly higher strabismus incidence when compared with the idiopaths （X2 = 3. 048, P = 0. 081 ）. The binocular distance vision in all the subjects was declined in comparison with normal eyes, the best corrected vision was 0.27± 0. 11 and 0.50±0. 13 in sensory defected nystagmus and idiopaths nystagmus respectively, showing a significant difference（ t = 16. 495, P = 0. 000）. The incidence of refractive error in this study was 77.62%. Incidence of astigmatism（75.17% ）was higher than that of myopia and hyperopia （39.03% and 36. 12% ）. No significant difference was seen in refraetive error incidence between the sensory defected and the idiopaths （X2 = 1. 337, P = 0. 248）. Patients of 65. 18% displayed non-stereoacuity or very gross acuity levels （3000＂）in this study, and the patients with idiopathic nystagmus showed better stereoacuity level in comparison with sensory defected ones （X2 = 7. 058,P = 0. 008 ）. Five of 313 patients existed experienced oscillopia under binocular viewing conditions.Conclusions Autosomal dominant inheritance is the most common pattern of congenital nystagmus. Conjugate uniplanar horizontal oscillation is thought to be a common type of nystagmus. Incidence of strabismus is higher, and visual acuity and stereoaeuity are worse in congenital nystagmus than in common population. Oscillopia is seldom found in congenital nystagmus.