Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography
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DOI：
10.1001/archopht.126.6.807
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发表时间：
2008-06-01
影响因子：
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通讯作者：
Heon, Elise
中科院分区：
文献类型：
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作者：
Gerth, Christina;Zawadzki, Robert J.;Heon, Elise
目的：利用高分辨率成像技术研究x连锁视网膜裂（XLRS）患者的视网膜显微结构和层压变化。方法：对诊断为XLRS的患者进行评估。视觉功能测试包括视敏度、色觉和全视野视网膜电图。我们使用高分辨率傅里叶域光学相干断层扫描（FD-OCT）系统（4.5 μ m轴向分辨率，9帧/秒，每帧1000次扫描）结合手持扫描仪。黄斑图像评价包括裂片定位和视网膜层完整性。结果：对6例XLRS患者进行了XLRS1基因突变检测。视力范围为0.2 ~ 1.6 logMAR（最小分辨角的对数）。FD-OCT结果显示，6例患者中有4例中央凹裂由外向内丛状层延伸。大疱性中央凹裂与年龄较小有关。所有患者均表现为核外、核内和神经节细胞层的中央凹外分裂，单独或合并。所有患者的光感受器外、内节层均出现破坏和不规则。结论：XLRS视网膜营养不良表现为视网膜内外层的形态学改变。所有患者的中央凹光感受器完整性均被发现紊乱。视网膜层异常与年龄相关，但似乎与视力或基因型变异无关。
Objective: To investigate the retinal microstructure and lamination of patients affected with X-linked retinoschisis (XLRS) using high-resolution imaging modalities.Methods: Patients diagnosed as having XLRS underwent assessment. Visual function testing included visual acuity, color vision, and full-field electroretinography. We used a high-resolution Fourier-domain optical coherence tomography (FD-OCT) system (4.5-mu m axial resolution; 9 frames/s; 1000 A-scans per frame) combined with a handheld scanner. Macular image evaluation included schisis localization and retinal layer integrity.Results: Six patients with XLRS and identified mutations in the XLRS1 gene underwent testing. Visual acuity ranged from 0.2 to 1.6 logMAR (logarithm of the minimum angle of resolution). Results of FD-OCT revealed foveal schisis extending from the outer to the inner plexiform layer in 4 of 6 patients. Bullous foveal schisis was associated with younger age. All patients showed extrafoveal schisis within the outer and inner nuclear and ganglion cell layer, alone or in combination. Photoreceptor outer and inner segment layers were disrupted and irregular in all patients.Conclusions: Retinal dystrophy in XLRS is reflected by morphological changes within the inner and outer retinal layers. Disturbed foveal photoreceptor integrity was identified in all patients. Retinal layer abnormalities correlated with age but did not appear to correlate with visual acuity or genotypic variation.