遗传性视网膜营养不良(IRD)是导致视网膜双侧变性的遗传性疾病,导致不可逆的视力丧失.这些情况通常在生命的第一个和第二个十年中表现出来,他们的主要症状可以是非特异性的。诊断过程包括对最佳矫正视力的评估,眼底镜检查,光学相干层析成像,眼底自发荧光,荧光素血管造影,电生理测试,和基因检测。本研究的重点是自适应光学(AO)的应用,非侵入性视网膜检查,用于评估IRD患者。AO促进高质量,详细观察视网膜光感受器结构(视锥和杆),并能够定量分析视锥密度(DM)等参数,锥间距(SM),圆锥规律性(REG),和Voronoi分析(N%6)。对诊断为Stargardt病的眼睛进行AO检查(STGD,N=36),锥体营养不良(CD,N=9),和锥杆营养不良(CRD,N=8),和健康的眼睛(N=14)。DM有显著差异,SM,REG,健康和受IRD影响的眼睛之间的N%6参数(DM的p<0.001,SM,和REG;对于N%6,p=0.008)。CD中的平均DM,CRD,和STGD组分别为8900.39/mm2、9296.32/mm2和16,209.66/mm2,具有显著的组间差异(p=0.006)。CD中的平均SM,CRD,STGD基团为12.37μm,14.82μm,和9.65μm,分别,组间观察到显著差异(p=0.002)。然而,CD中REG和N%6没有发现显著差异,CRD,和STGD组。发现CD和STGD之间的SM和DM存在显着差异(SM为p=0.014;DM为p=0.003),CRD和STGD之间存在显着差异(SM为p=0.027;DM为p=0.003)。我们的发现表明,AO具有作为IRD的有效诊断工具的巨大潜力。
Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encompass assessments of best-corrected visual acuity, fundoscopy, optical coherence tomography, fundus autofluorescence, fluorescein angiography, electrophysiological tests, and genetic testing. This
study focuses on the application of adaptive optics (AO), a non-invasive retinal examination, for the assessment of patients with IRDs. AO facilitates the high-quality, detailed observation of retinal photoreceptor structures (cones and rods) and enables the quantitative analysis of parameters such as cone density (DM), cone spacing (SM), cone regularity (REG), and Voronoi analysis (N%6). AO examinations were conducted on eyes diagnosed with Stargardt disease (STGD, N=36), cone dystrophy (CD, N=9), and cone-rod dystrophy (CRD, N=8), and on healthy eyes (N=14). There were significant differences in the DM, SM, REG, and N%6 parameters between the healthy and IRD-affected eyes (p<0.001 for DM, SM, and REG; p=0.008 for N%6). The mean DM in the CD, CRD, and STGD groups was 8900.39/mm2, 9296.32/mm2, and 16,209.66/mm2, respectively, with a significant inter-group difference (p=0.006). The mean SM in the CD, CRD, and STGD groups was 12.37 μm, 14.82 μm, and 9.65 μm, respectively, with a significant difference observed between groups (p=0.002). However, no significant difference was found in REG and N%6 among the CD, CRD, and STGD groups. Significant differences were found in SM and DM between CD and STGD (p=0.014 for SM; p=0.003 for DM) and between CRD and STGD (p=0.027 for SM; p=0.003 for DM). Our findings suggest that AO holds significant potential as an impactful diagnostic tool for IRDs.