遗传性视网膜退行性疾病继发视网膜层间囊样变的影像学分析  

Distinct imaging features of intraretinal cysts demonstrated in patients of inherited retinal degenerations

作　　者：张丛 刘威 史雪辉 李倩 Zhang Cong;Liu Wei;Shi Xuehui;Li Qian(Beijing Tongren Eye Center,Beijing Tongren Hospital,Capital Medical University,Beijing Key Laboratory of Ophthalmology and Visual Science,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京同仁医院,北京同仁眼科中心,眼科学与视觉科学北京市重点实验室,北京100730

出　　处：《眼科》2024年第6期435-440,共6页Ophthalmology in China

摘　　要：目的分析比较遗传性视网膜退行性疾病(IRD)患者在频域OCT(SD-OCT)检查中表现为视网膜层间囊样变(IRC)的影像学特征。设计回顾性病例系列。研究对象2020-2024年北京同仁医院眼科门诊收集的IRD患者56例(92眼)的SD-OCT图像,其中原发性视网膜色素变性(RP)34例(54眼),Bietti结晶样营养不良(BCD)15例(24眼),常染色体隐性遗传性卵黄样黄斑营养不良(ARB)7例(14眼)。方法分析比较所有患者SD-OCT图像中IRC的形态、分布位置及与视网膜外层组织,包括外界膜(OLM)、椭圆体带(EZ)、光感受器细胞外节(PRL-OS)、嵌合体区(IZ)和视网膜色素上皮层(RPE)退行性改变的对应关系。同时分析进行过FFA检查的患者的FFA影像学特点。主要指标IRC的形态特征及分布位置、视网膜外层组织光带的形态。结果SD-OCT图像上IRC分为中心型、微小囊腔(MME)型以及混合型。RP患者中24眼(44.5%)呈中心型或混合型,30眼(55.5%)为MME型,IRC见于内核层(INL)54眼(100%)、外核层(ONL)25眼(46.3%)及神经节细胞层(GCL)5眼(9.3%);中心凹外OLM、EZ、IZ及RPE光带部分或完全缺失,23眼(42.6%)累及中心凹;42眼(77.8%)IRC对应位置视网膜外层组织光带未见缺失。BCD患者IRC均为散在分布的MME,见于INL者24眼(100%)及GCL者10眼(41.7%);OLM、EZ、IZ及RPE光带缺失呈多灶性、不均匀分布,IRC对应位置均为缺失区,其中10眼(41.7%)靠近缺失区与保留区的交界。ARB患者IRC有10眼(71.4%)为混合型(中心凹大囊腔及旁中心凹多发MME),4眼(28.6%)为多发连续分布的MME,见于INL者14眼(100%)及ONL者10眼(71.4%);相对应外层视网膜均伴有神经上皮层脱离、PRL-OS增厚及其外侧高反射物质沉积。FFA示,RP患者(n=10,16眼)有14眼(87.5%)可见周边视网膜毛细血管扩张及荧光渗漏,2眼(12.5%)为周边视网膜毛细血管渔网状扩张及动脉瘤样扩张,晚期12眼(75%)黄斑区表现为花瓣样荧光积存。BCD患者(n=7,14眼)、ARB患者(n=3,6眼)未Objective To assess the characteristics of intraretinal cysts(IRC)in patients with inherited retinal degenerations(IRD)using spectral domain optical coherence tomography(SD-OCT)images.Design Retrospective case series.Participants 92 eyes of 56 patients diagnosed with IRD at Beijing Tongren Hospital between 2020 and 2024,including 34 patients(54 eyes)with retinitis pigmentosa(RP),15 patients(24 eyes)with Bietti crystalline dystrophy(BCD)and 7 patients(14 eyes)with autosomal recessive bestrophinopathy(ARB).Methods 92 eyes of 56 cases in the IRD database,all displaying IRC,were further examined to analyze the macular structures on SD-OCT and vascular changes on fundus fluorescein angiography(FFA).On SD-OCT iamges,the characteristics and locations of IRC,as well as structural alterations in the outer layers of the retina such as the outer limiting membrane(OLM),ellipsoid zone(EZ),outer segments of photoreceptors layer(PRL-OS),interdigitation zone(IZ),and retinal pigment epithelium(RPE)were assessed.Main Outcome Measures The morphology and locations of IRC,structural alterations in the outer layers of the retina on SD-OCT images.Results IRC appeared in different forms including"the central type","the microcystic macular edema(MME)type",and"the mixed type"on SD-OCT images.In RP patients,IRC demonstrated as the central type or the mixed type in 24 eyes(44.5%),and as MME type in 30 eyes(55.5%).IRC were observed in the inner nuclear layer(INL)(54 eyes,100%),outer nuclear layer(ONL)(25 eyes,46.3%),and Ganglion cell layer(GCL)(5 eyes,9.3%).Structural changes such as partial or complete loss of OLM,EZ,IZ,and RPE layers at parafovea were noted,and fovea affected in 23 eyes(42.6%).IRC located in preserved sections of these layers in 46 eyes(77.8%).Conversely,BCD patients all displayed IRC as the MME type(24 eyes,100%)with MME of dispersed distribution located in the INL(24 eyes,100%)and GCL(10 eyes,41.7%).Severe loss of the OLM,EZ,IZ,and RPE layers was noted throughout the macula,and usually presented as multifocal and typical

关 键 词：视网膜层间囊样变 遗传性视网膜退行性疾病 原发性视网膜色素变性 Bietti结晶样营养不良 常染色体隐性遗传性卵黄样黄斑营养不良 

分 类 号：R774.1[医药卫生—眼科]