婴儿眼球震颤综合征的研究进展

婴儿眼球震颤综合征(infantile nystagmus syndrome,INS)是一种先天性病理性眼球震颤,以双眼非自主性的共轭摆动和反向视动性眼球震颤为特征表现。INS患者可合并弱视、斜视及斜颈等,常有不同程度的视功能障碍。该病病因尚不明确,且无法完全治愈,应尽早对INS进行检查和适当干预。基于国内外对INS的研究成果,本文首先总结了INS目前所知的病因及发生机制; 其次,介绍了INS近年提出的检查方法与治疗方案,总结了相关临床实践中存在的问题,并在此基础上,对未来可能的研究方向给出了建议,旨在为临床应用及未来研究方向提供参考。     

儿童眼皮肤白化病合并婴儿型眼球震颤综合征的手术治疗

目的探讨儿童眼皮肤白化病（OCA）合并婴儿型眼球震颤综合征（INS）的手术治疗效果。方法收集2012年4月至2015年5月在山东省立医院眼科门诊就诊的OCA伴INS儿童。患儿均行详细眼科一般检查、眼球运动描记等检查。手术方式及手术量根据患儿伴或不伴代偿头位、斜视、集合阻滞等设计。术后随访至少3个月。术后观察最佳矫正视力（BCVA）、斜视度、代偿头位、眼球震颤强度的变化。结果收集符合条件的患者87例,其中男性49例,女性38例,平均年龄（2．41±1．78）岁。平均随访（13．6±12．7）月（3-41月）。伴代偿头位者77例,其中下颌内收型最多见（63例）。合并斜视者38例,其中共同性内斜视26例,共同性外斜视12例。存在集合阻滞现象者2例。术后观察,无一例出现视力下降。较大年龄患儿BCVA较术前平均增加0．1logMAR。代偿头位均明显改善,眼球震颤强度均明显减低。斜视患者眼位均正位。结论对OCA合并INS的儿童进行眼球震颤手术能提高视功能,改善代偿头位,减轻眼球震颤,是一种安全、有效的方法。     

先天性眼球震颤检查及手术治疗进展

先天性眼球震颤(congenital nystagmus.CN)是指出生或生后2～4月内出现的一种不自主性眼球运动.随着现代科技的迅速发展,各种检查手段引入CN的研究领域,如视觉电生理,眼震电图频谱分析,电子计算机,实现了对CN患者精确、完整地定量评估.手术治疗在传统的术式基础上也有了大的改进.本文扼要综述近年来对CN患者的检查方法和手术治疗的一些进展.     

眼球震颤诊治进展

眼球震颤是指双眼有节律的、不自主的,常呈对称共轭性的异常摆动,可根据发病年龄分为先天性眼球震颤和后天获得性眼球震颤。由于目前有限的诊治手段使得眼球震颤成为较为复杂的眼科疑难疾病之一。近年来,国际和国内对该类疾病的检测和诊疗水平在不断进步。本文将对眼球震颤的分类及特点,检查记录方法以及治疗的新进展进行综述。     

眼球震颤阻滞综合征的临床研究

眼球震颤阻滞综合征的特点为内斜视前先有眼球震颤,双侧外展神经假性麻痹以及当注视眼由内转位向外转位运动时,出现显性眼球震颤。本文结合临床资料就其发病率、临床表现、鉴别诊断和手术方法作了简要讨论。     

眼球震颤的诊断与治疗研究进展

眼球震颤是常见的眼球运动障碍疾病,临床诊治困难。随着近年眼球运动记录方法的进步和药物、手术及基因治疗的研究进展,为临床该病的诊断和治疗提供了更多的选择,也为眼球震颤患者带来新的希望。本文就该病诊断与治疗的最新研究进展进行了综述。     

隐性眼球震颤

隐性眼球震颤(Latent nystagmus又称潜在性眼球震颤.此症平时无眼球震颤表现,当遮盖一眼时,则出现显性眼球震颤.因检查不细心或对此症缺乏认识易造成漏诊.现结合一完整病历简要综述如下:     

伴有隐性眼球震颤弱视的遮盖治疗

目的：探讨遮盖疗法对伴有隐性眼球震颤弱视眼视力的治疗效果及眼球震颤的变化。方法：将隐性眼球震颤合并单眼弱视的52例患儿（52只眼）,按弱视程度分为轻、中、重三组,采用全部遮盖及部分遮盖方法,每月复查一次视力、眼位、眼底及眼球震颤情况。视力提高到1.0后继续治疗3-6月。结果：52例中视力提高≥2行者48例（国际标准视力表）,提高达1.0者22例。无论弱视眼视力提高≥2行,还是提高到1.0,眼球震颤无明显改变。结论：采用遮盖疗法可以提高伴有隐性眼球震颤弱视眼的视力,但视力提高后眼球震颤无明显改变。     

先天性眼球震颤的手术治疗

先天性眼球震颤病因不明。其临床特点是：眼球震颤是冲动型。有快慢相之分。病人有明显的代偿头位，面部转向与视线方向相反，有较稳定的中间带。常合并有水平斜视，且视力在代偿头位时常较第一眼位视力提高。手术治疗是目前该病的主要治疗方法。     

Topical lambda-cyhalothrin in reducing eye oscillations in a canine model of infantile nystagmus syndrome

Purpose:To determine the ocular and systemic safety of using topical Lambda-Cyhalothrin (LCL) in a canine model of infantile nystagmus syndrome (INS). The rationale for this proposal is based on a case study of a patient whose INS improved after inadvertent ocular exposure to a pyrethroid pesticide containing LCL.Methods:After in-vitro safety testing and IUCAC approval, we studied increasing concentrations of topical LCL drops (0.002% to 0.07%) in canines with a purposely bred defect in the RPE65 gene resulting in both retinal degeneration and INS. We collected data on ocular and systemic effects and performed eye-movement recordings (EMR).Results:At the 0.07% concentration dose of LCL, there was minimal, reversible, conjunctival hyperemia. There was no other ocular or systemic toxicity. At the 0.06% dose, there was a visible decrease in the INS and EMR showed a 153%–240% increase in the nystagmus acuity function and a 30%–70% decrease in amplitude across gaze. There was also a 40%–60% decrease in intraocular pressure while on the drop in both eyes.Conclusion:This animal study suggests this new pharmacological agent has potential for topical treatment of both INS and diseases with raised intraocular pressure. Further, this new treatment approach confirms the importance of extraocular muscle proprioception in ocular motor diseases and their treatment.     

Surgery for the treatment of vertical head posturing associated with infantile nystagmus syndrome: results in 24 patients

Background: The study of the clinical and electrophysiological effects of eye muscle surgery on patients with infantile nystagmus has broadened our knowledge of the disease and its interventions. Design: Prospective, comparative, interventional case series. Participants: Twenty‐four patients with a vertical head posture because of electrophysiologically diagnosed infantile nystagmus syndrome. The ages ranged from 2.5 to 38 years and follow up averaged 14.0 months. Methods: Thirteen patients with a chin‐down posture had a bilateral superior rectus recession, inferior oblique myectomy and a horizontal rectus recession or tenotomy. Those 11 with a chin‐up posture had a bilateral superior oblique tenectomy, inferior rectus recession and a horizontal rectus recession or tenotomy. Main Outcome Measures: Outcome measures included: demography, eye/systemic conditions and preoperative and postoperative; binocular, best optically corrected, null zone acuity, head posture, null zone foveation time and nystagmus waveform changes. Results: Associated conditions were strabismus in 66%, ametropia in 96%, amblyopia in 46% and optic nerve, foveal dysplasia or albinism in 54%. Null zone acuity increased at least 0.1 logMAR in 20 patients (P < 0.05 group mean change). Patients had significant (P < 0.05) improvements in degrees of head posture, average foveation time in milliseconds and infantile nystagmus syndrome waveform improvements. Conclusions: This study illustrates a successful surgical approach to treatment and provides expectations of ocular motor and visual results after vertical head posture surgery because of an eccentric gaze null in patients with infantile nystagmus syndrome.     

Long-term results of four horizontal rectus muscle recession in nystagmus treatment

Purpose: To report the long-term results of four horizontal rectus muscle recessions that were performed for infantile nystagmus syndrome treatment.

Methods: In this case series, patients with infantile nystagmus syndrome who had four horizontal muscle recessions previously were recruited and ophthalmological examination and electronystagmography recordings were performed. Objectively, amplitude and frequency of nystagmus were measured from the recordings and the intensity was calculated. Visual acuity, stereopsis, and alignment were evaluated and compared with the preoperative and postoperative values.

Results: The records of the 12 patients who had four horizontal rectus muscle recession surgery were evaluated and six patients (5 male, 1 female) who had regular follow-ups were included in this study. Mean follow-up was 14.17?±?0.41 years (minimum 14 years, maximum 15 years) and mean age of patients at the last visit was 22 years (20-28 years). On subjective evaluation, two-thirds (4/6) of the patients were satisfied with the surgical results and had the impression that after surgery, nystagmus decreased in intensity and head posture improved. On objective evaluation, visual acuity was found to be the same, however, stereopsis improved (preoperatively and postoperatively median stereopsis was 600?sec arc vs 200?sec arc final). The decrease in nystagmus amplitude and frequency was still maintained.

Conclusions: Nystagmus surgery on four horizontal rectus muscles has positive effects on binocular function and nystagmus parameters in the long-term follow-up. As we could not treat the primary pathology, the visual acuity was about the same but the decrease in nystagmus amplitude and frequency was still maintained with better stereopsis, and patient satisfaction.     

The sub-clinical see-saw nystagmus embedded in infantile nystagmus

A transient, decompensated vertical phoria in an individual with infantile nystagmus syndrome (INS) resulted in two images that oscillated vertically-a diplopic oscillopsia. Ocular motor studies during the vertical oscillopsia recreated by vertical prisms, led to the identification of a sub-clinical see-saw nystagmus (SSN), present under the prism-induced diplopic condition. Retrospective analysis of ocular motor recordings made prior to the above episode of vertical diplopia revealed the presence of that same sub-clinical SSN. The SSN had not been detected previously despite extensive observations and recordings of this subject's pendular IN over a period of forty years. Three- dimensional search-coil data from fourteen additional INS subjects (with pendular and jerk waveforms) confirmed the existence of sub-clinical SSN embedded within the clinically detectable horizontal-torsional IN in seven of the fifteen and a sub-clinical, conjugate, vertical component in the remaining eight. Unlike the clinically visible SSN found in achiasma, the cause of this sub-clinical SSN is hypothesized to be due to a failure of the forces of the oblique muscles (responsible for the torsional component of the IN) to balance out the associated forces of the vertical recti; the net result is a small, sub-clinical SSN. Thus, so-called "horizontal" IN is actually a horizontal-torsional oscillation with a secondary, sub-clinical SSN or conjugate vertical component. The suppression of oscillopsia by efference copy in INS appears to be accomplished for each eye individually, even in a binocular individual. However, failure to fuse the two images results in oscillopsia of one of them.     

先天性眼球震颤治疗方法研究进展

先天特发眼球震颤是以眼部表现为主的疾病,虽然不属于常见或多发病,但在临床上并非罕见,多见于婴幼儿,发病时间一般都在半岁以内。该病的特点为:发病早或发病时间不能确定,眼球不自主的持续跳动或摆动,极少患者有晃视感,大多数患者都有不同程度的视力损害,有的视力减低比较严重,而且不能矫正,较多患者有侧视现象和代偿头位表现,有的头部摇晃,还有的表现为频繁眨眼等代偿现象。该病的主要治疗手段是手术治疗,但影响手术效果的因素很多:发病年龄,眼震强度,代偿头位,休止眼位,视力,手术方式和手术量等。随着近年的发展,对该病有了更深入的认识,我们就一些问题做一简要回顾。     

Eye movements elevate crowding in idiopathic infantile nystagmus syndrome

Idiopathic infantile nystagmus syndrome is a disorder characterised by involuntary eye movements, which leads to decreased acuity and visual function. One such function is visual crowding – a process whereby objects that are easily recognised in isolation become impaired by nearby flankers. Crowding typically occurs in the peripheral visual field, although elevations in foveal vision have been reported in congenital nystagmus, similar to those found with amblyopia. Here, we examine whether elevated foveal crowding with nystagmus is driven by similar mechanisms to those of amblyopia – long-term neural changes associated with a sensory deficit – or by the momentary displacement of the stimulus through nystagmus eye movements. A Landolt-C orientation identification task was used to measure threshold gap sizes with and without either horizontally or vertically placed Landolt-C flankers. We assume that a sensory deficit should give equivalent crowding in these two dimensions, whereas an origin in eye movements should give stronger crowding with horizontal flankers given the predominantly horizontal eye movements of nystagmus. We observe elevations in nystagmic crowding that are above crowding in typical vision but below that of amblyopia. Consistent with an origin in eye movements, elevations were stronger with horizontal than vertical flankers in nystagmus, but not in typical or amblyopic vision. We further demonstrate the same horizontal elongation in typical vision with stimulus movement that simulates nystagmus. Consequently, we propose that the origin of nystagmic crowding lies in the eye movements, either through image smear of the target and flanker elements or through relocation of the stimulus into the peripheral retina.