PDF(Pubmed)
Abstract：
UNASSIGNED: To determine the structure of the cone photoreceptor mosaic in the macula in eyes with retinitis pigmentosa related to Usher syndrome using adaptive optics fundus (AO) imaging and to correlate these findings with those of the standard clinical diagnostics.
UNASSIGNED: Ten patients with a genetically confirmed retinitis pigmentosa in Usher syndrome due to biallelic variants in MYO7A or USH2A were enrolled in the study. All patients underwent a complete ophthalmological examination including best corrected visual acuity (BCVA), spectral-domain optical coherence tomography (SD-OCT) with fundus autofluorescence photography (FAF), full-field (ffERG) and multifocal electroretinography (mfERG) and Adaptive Optics Flood Illuminated Ophthalmoscopy (AO, rtx1™, Imagine Eyes, Orsay, France). The cone density was assessed centrally and at each 0.5 degree horizontally and vertically from 1-4 degree of eccentricity.
UNASSIGNED: In the AO images, photoreceptor cell death was visualized as a disruption of the cone mosaic and low cone density. In the early stage of the disease, cones were still visible in the fovea, whereas outside the fovea a loss of cones was recognizable by blurry, dark patches. The blurry patches corresponded to the parafoveal hypofluorescent ring in the FAF images and the beginning loss of the IS/OS line and external limiting membrane in the SD-OCT images. FfERGs were non-recordable in 7 patients and reduced in 3. The mfERG was reduced in all patients and correlated significantly (p <0.001) with the cone density. The kinetic visual field area, measured with III4e and I4e, did not correlate with the cone density.
UNASSIGNED: The structure of the photoreceptors in Usher syndrome patients were detectable by AO fundus imaging. The approach of using high-resolution technique to assess the photoreceptor structure complements the established clinical examinations and allows a more sensitive monitoring of early stages of retinitis pigmentosa in Usher syndrome.
UNASSIGNED: Ten patients with a genetically confirmed retinitis pigmentosa in Usher syndrome due to biallelic variants in MYO7A or USH2A were enrolled in the study. All patients underwent a complete ophthalmological examination including best corrected visual acuity (BCVA), spectral-domain optical coherence tomography (SD-OCT) with fundus autofluorescence photography (FAF), full-field (ffERG) and multifocal electroretinography (mfERG) and Adaptive Optics Flood Illuminated Ophthalmoscopy (AO, rtx1™, Imagine Eyes, Orsay, France). The cone density was assessed centrally and at each 0.5 degree horizontally and vertically from 1-4 degree of eccentricity.
UNASSIGNED: In the AO images, photoreceptor cell death was visualized as a disruption of the cone mosaic and low cone density. In the early stage of the disease, cones were still visible in the fovea, whereas outside the fovea a loss of cones was recognizable by blurry, dark patches. The blurry patches corresponded to the parafoveal hypofluorescent ring in the FAF images and the beginning loss of the IS/OS line and external limiting membrane in the SD-OCT images. FfERGs were non-recordable in 7 patients and reduced in 3. The mfERG was reduced in all patients and correlated significantly (p <0.001) with the cone density. The kinetic visual field area, measured with III4e and I4e, did not correlate with the cone density.
UNASSIGNED: The structure of the photoreceptors in Usher syndrome patients were detectable by AO fundus imaging. The approach of using high-resolution technique to assess the photoreceptor structure complements the established clinical examinations and allows a more sensitive monitoring of early stages of retinitis pigmentosa in Usher syndrome.
摘要：
■使用自适应光学眼底（AO）成像确定与Usher综合征相关的色素性视网膜炎的黄斑中视锥感光体马赛克的结构，并将这些发现与标准临床诊断的发现相关联。
■本研究纳入了10例由于MYO7A或USH2A的双等位基因变异导致的Usher综合征的基因证实的色素性视网膜炎患者。所有患者均接受完整的眼科检查，包括最佳矫正视力（BCVA）。光谱域光学相干断层扫描（SD-OCT）与眼底自发荧光摄影（FAF），全视场(ffERG)和多焦视网膜电图(mfERG)和自适应光学洪水照明检眼镜(AO，rtx1™,想象一下眼睛，奥赛,法国)。从1-4度的偏心度,在中心和水平和垂直每个0.5度评估锥体密度。
■在AO图像中，感光细胞死亡被可视化为锥体马赛克的破坏和低锥体密度。在疾病的早期，锥体在中央凹仍然可见，而在中央凹外面，视锥的丢失是模糊的，黑暗的补丁。模糊的斑块对应于FAF图像中的下凹低荧光环以及SD-OCT图像中的IS/OS线和外部限制膜的开始丢失。FfERGs在7例患者中不可记录，在3例患者中减少。所有患者的mfERG均降低，并且与视锥密度显着相关（p<0.001）。动态视野区域，用III4e和I4e测量，与视锥密度无关。
■通过AO眼底成像可以检测到Usher综合征患者的光感受器结构。使用高分辨率技术评估光感受器结构的方法补充了已建立的临床检查，并允许对Usher综合征中色素性视网膜炎的早期阶段进行更灵敏的监测。
■本研究纳入了10例由于MYO7A或USH2A的双等位基因变异导致的Usher综合征的基因证实的色素性视网膜炎患者。所有患者均接受完整的眼科检查，包括最佳矫正视力（BCVA）。光谱域光学相干断层扫描（SD-OCT）与眼底自发荧光摄影（FAF），全视场(ffERG)和多焦视网膜电图(mfERG)和自适应光学洪水照明检眼镜(AO，rtx1™,想象一下眼睛，奥赛,法国)。从1-4度的偏心度,在中心和水平和垂直每个0.5度评估锥体密度。
■在AO图像中，感光细胞死亡被可视化为锥体马赛克的破坏和低锥体密度。在疾病的早期，锥体在中央凹仍然可见，而在中央凹外面，视锥的丢失是模糊的，黑暗的补丁。模糊的斑块对应于FAF图像中的下凹低荧光环以及SD-OCT图像中的IS/OS线和外部限制膜的开始丢失。FfERGs在7例患者中不可记录，在3例患者中减少。所有患者的mfERG均降低，并且与视锥密度显着相关（p<0.001）。动态视野区域，用III4e和I4e测量，与视锥密度无关。
■通过AO眼底成像可以检测到Usher综合征患者的光感受器结构。使用高分辨率技术评估光感受器结构的方法补充了已建立的临床检查，并允许对Usher综合征中色素性视网膜炎的早期阶段进行更灵敏的监测。
