High-resolution imaging with adaptive optics in patients with inherited retinal degeneration
High-resolution imaging with adaptive optics in patients with inherited retinal degeneration
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DOI：
10.1167/iovs.06-1422
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发表时间：
2007-07-01
影响因子：
4.4
通讯作者：
Roorda, Austin
中科院分区：
文献类型：
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作者：
Duncan, Jacque L.;Zhang, Yuhua;Roorda, Austin
目的.采用高分辨率图像研究遗传性视网膜变性患者的黄斑感光细胞结构，并将其与临床表型和基因突变相关联。自适应光学扫描激光检眼镜（AOSLO）图像的光感受器获得16只眼睛：5视网膜色素变性（RP），3与锥-杆营养不良（CRD），8没有视网膜疾病。二次模型被用来说明视锥间距作为视网膜偏心率的函数。将1个偏心距下的视锥间距与中央视功能的标准测量进行比较，包括最佳矫正视力（BCVA）、中心凹阈值和多焦视网膜电图（mfERG）振幅和时间。在1例RP患者和1例CRD患者中研究了访视间变化。候选疾病基因的筛选确定了两名患者的突变，一名患者患有RP（一种视紫红质突变），另一名患者患有CRD（一种新的RPGR-ORF 15突变）。RP（P = 0.01）和CRD（P < 0.0001）患者的视锥间距值与正常值有显著差异，并与中心凹阈值（P = 0.0003）、BCVA（P = 0.01）和mfERG振幅（P = 0.008）具有统计学显著相关性。尽管许多RP患者在1个注视点内表现出正常的视锥间距，但在几个视网膜区域中无法明确识别视锥。所有CRD患者的视锥细胞间距增加，即使是那些早期疾病。在间隔少于8天的两次治疗中，观察到锥间距的变化很小。AOSLO图像可用于研究视网膜变性患者的高分辨率黄斑锥。作者首次报道了视紫红质和RPGR-ORF 15突变患者体内的视锥结构，并表明黄斑视锥显示出不同的特征，这取决于潜在的疾病。因此，AOSLO成像可以为视网膜变性患者的锥体视觉丧失的可能机制提供新的见解。
PURPOSE. To investigate macular photoreceptor structure in patients with inherited retinal degeneration using high-resolution images and to correlate the findings with clinical phenotypes and genetic mutations.METHODS. Adaptive optics scanning laser ophthalmoscopy (AOSLO) images of photoreceptors were obtained in 16 eyes: five with retinitis pigmentosa (RP), three with cone-rod dystrophy (CRD), and eight without retinal disease. A quadratic model was used to illustrate cone spacing as a function of retinal eccentricity. Cone spacing at 1 eccentricity was compared with standard measures of central visual function, including best-corrected visual acuity (BCVA), foveal threshold, and multifocal electroretinogram (mfERG) amplitude and timing. Intervisit variations were studied in one patient with RP and one patient with CRD. Screening of candidate disease genes identified mutations in two patients, one with RP (a rhodopsin mutation) and the other with CRD (a novel RPGR-ORF15 mutation).RESULTS. Cone spacing values were significantly different from normal for patients with RP (P = 0.01) and CRD (P < 0.0001) and demonstrated a statistically significant correlation with foveal threshold (P = 0.0003), BCVA (P = 0.01), and mfERG amplitude (P = 0.008). Although many RP patients showed normal cone spacing within 1 of fixation, cones could not be unambiguously identified in several retinal regions. Cone spacing increased in all CRD patients, even those with early disease. Little variation was observed in cone spacing measured during two sessions fewer than 8 days apart.CONCLUSIONS. AOSLO images can be used to study macular cones with high resolution in patients with retinal degeneration. The authors present the first report of cone structure in vivo in patients with mutations in rhodopsin and RPGR-ORF15 and show that macular cones display distinct characteristics, depending on the underlying disease. AOSLO imaging, therefore, can provide new insight into possible mechanisms of cone vision loss patients with retinal degeneration.