成人型神经元核内包涵体病相关视网膜病变的多模式影像学分析  

Analysis of adult-onset neuronal intranuclear inclusion disease with retinopathies using multimode imaging

作　　者：陈倩 栾兴华 冯超逸 孙平 曹煜雯 邬静莹 王诗格 孙兴怀 曹立[2] 田国红 CHEN Qian;LUAN Xinghua;FENG Chaoyi;SUN Ping;CAO Yuwen;WU Jingying;WANG Shige;SUN Xinghuai;CAO Li;TIAN Guohong(Department of Ophthalmology,Eye&ENT Hospital,Fudan University,Shanghai 200031,China;Department of Neurology,Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Shanghai 202201,China;NHC Key Laboratory of Myopia(Fudan University),Key Laboratory of Visual Impairment and Restoration,Shanghai 200031,China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院眼科,上海200031 [2]上海交通大学附属上海市第六人民医院神经内科,上海201101 [3]上海市视觉损害与重建重点实验室(复旦大学),上海200031

出　　处：《中国眼耳鼻喉科杂志》2021年第1期3-8,共6页Chinese Journal of Ophthalmology and Otorhinolaryngology

基　　金：国家自然科学基金重点项目(81430007);国家自然科学基金面上项目(82071258,81870889)。

摘　　要：目的分析成人型神经元核内包涵体病(NIID)患者的眼部临床表现及其特征。方法对5例经皮肤活检及NOTCH2NLC基因检测GGC重复扩展突变确诊的成人型NIID患者进行详尽眼科检查,包括最佳矫正视力(BCVA)、眼底照相、自发荧光、中心视野、光学相干层析成像(OCT)、视网膜电图(ERG)、多焦ERG(mfERG)以及超声生物显微镜(UBM)等,收集特征性改变。结果5例均发现视网膜结构与功能改变,病变主要位于视盘旁及后极部,OCT表现为不同程度的椭圆体带缺失及黄斑区节细胞层弥漫性变薄,ERG和mfERG表现为相应部位不同程度的反应降低,瞳孔缩小的患者可伴有睫状突肥大和浅前房。结论NIID患者具有视网膜变性特征,以外节感光细胞层和内节神经节细胞受累为主,瞳孔受累的患者可存在潜在闭角型青光眼风险。Objective To evaluate the ophthalmological manifestation of adult-onset neuronal intranuclear inclusion disease(NIID).Methods Five cases of NIID diagnosed by skin biopsy and NOTCH2NLC gene mutation of GGC repeat expansion,the ophthalmic examination included best corrected visual acuity(BCVA),fundus photography,fundus autofluorescence(AF),visual field test,optical coherence tomography(OCT),full-field electroretinography(ERG),multifocal ERG(mfERG),and ultrasound biomicoscopy(UBM).Results Retinopathies were found in all 5 cases,including structure disruption in OCT and functional changes in retina electrophysiology.The retinal dystrophy mainly localized at peripapillary and posterior regions.OCT showed absence of the ellipsoid zone of the photoreceptors and mild macular ganglion cell loss,combined with reduced responses recording with ERG and mfERG in the corresponding areas.Patients with miosis showed ciliary process hypertrophy and shallowed anterior chamber.Conclusions NIID patients showed retinopathies with the damage mainly localized in outer layer of photoreceptor and inner ganglion cell layer.Patients with miosis had potential risk of angle-closure glaucoma attack.

关 键 词：神经元核内包涵体病 NOTCH2NLC基因 视网膜变性 光学相干层析成像 眼底自发荧光 瞳孔缩小 

分 类 号：R774.1[医药卫生—眼科] R741[医药卫生—临床医学]