PDF(Pubmed)
Abstract：
OBJECTIVE: To investigate the temporal sequence of changes in the photoreceptor cell mosaic in patients with Stargardt disease type 1, using adaptive optics scanning laser ophthalmoscopy.
METHODS: Two brothers with genetically confirmed Stargardt disease type 1 underwent comprehensive eye exams, spectral-domain optical coherence tomography, fundus autofluorescence, and adaptive optics scanning laser ophthalmoscopy imaging 3 times over the course of 28 months. Confocal images of the cones and rods were obtained from the central fovea to 10° inferiorly. Photoreceptors were counted in sampling windows at 100- µ m intervals of 200 µ m × 200 µ m for cones and 50 µ m × 50 µ m for rods, using custom cell marking software with manual correction. Photoreceptor density and spacing were measured and compared across imaging sessions using one-way analysis of variance.
RESULTS: Adaptive optics scanning laser ophthalmoscopy revealed the younger brother had a 30% decline in foveal cone density after 8 months, followed by complete loss of foveal cones at 28 months; the older brother had no detectable foveal cones at baseline. In the peripheral macula, cone and rod spacings were greater than normal in both patients. The ratio of the cone spacing to rod spacing was greater than normal across all eccentricities, with a greater divergence closer to the foveal center.
CONCLUSIONS: Cone cell loss may be an early pathogenetic step in Stargardt disease. Adaptive optics scanning laser ophthalmoscopy provides the capability to track individual photoreceptor changes longitudinally in Stargardt disease.
METHODS: Two brothers with genetically confirmed Stargardt disease type 1 underwent comprehensive eye exams, spectral-domain optical coherence tomography, fundus autofluorescence, and adaptive optics scanning laser ophthalmoscopy imaging 3 times over the course of 28 months. Confocal images of the cones and rods were obtained from the central fovea to 10° inferiorly. Photoreceptors were counted in sampling windows at 100- µ m intervals of 200 µ m × 200 µ m for cones and 50 µ m × 50 µ m for rods, using custom cell marking software with manual correction. Photoreceptor density and spacing were measured and compared across imaging sessions using one-way analysis of variance.
RESULTS: Adaptive optics scanning laser ophthalmoscopy revealed the younger brother had a 30% decline in foveal cone density after 8 months, followed by complete loss of foveal cones at 28 months; the older brother had no detectable foveal cones at baseline. In the peripheral macula, cone and rod spacings were greater than normal in both patients. The ratio of the cone spacing to rod spacing was greater than normal across all eccentricities, with a greater divergence closer to the foveal center.
CONCLUSIONS: Cone cell loss may be an early pathogenetic step in Stargardt disease. Adaptive optics scanning laser ophthalmoscopy provides the capability to track individual photoreceptor changes longitudinally in Stargardt disease.
摘要：
目的：研究Stargardt病1型（STGD1）患者感光细胞镶嵌变化的时间顺序，使用自适应光学扫描激光检眼镜（AOSLO）。
方法：两名经基因证实为STGD1的兄弟接受了全面的眼科检查，频域光学相干层析成像(SD-OCT),眼底自动荧光（FAF）和AOSLO成像在28个月的过程中3次。从中央凹向下10度获得锥体和棒的共聚焦图像。光感受器在采样窗口中以100µm的间隔计数，圆锥体为200µm×200µm，棒为50µm×50µm，使用自定义单元格标记软件与手动校正。使用单向ANOVA测量并比较成像过程中的光感受器密度和间距。
结果：AOSLO显示弟弟在8个月后中央凹锥体密度下降了30％，随后在28个月时完全丧失中央凹锥;哥哥在基线时没有检测到中央凹锥。在周围黄斑，锥形和杆间距大于正常的两个患者。在所有偏心率中，圆锥体间距与杆间距之比大于法线，在靠近中央凹中心的地方有更大的分歧。
结论：锥体细胞丢失可能是Stargardt病的早期发病步骤。AOSLO提供了在Stargardt病中纵向跟踪个体光感受器变化的能力。
结论：Stargardt病的发病机制尚不清楚。我们使用高分辨率AOSLO来跟踪疾病的进展，并发现视锥细胞丢失可能是Stargardt病的早期发病步骤。
方法：两名经基因证实为STGD1的兄弟接受了全面的眼科检查，频域光学相干层析成像(SD-OCT),眼底自动荧光（FAF）和AOSLO成像在28个月的过程中3次。从中央凹向下10度获得锥体和棒的共聚焦图像。光感受器在采样窗口中以100µm的间隔计数，圆锥体为200µm×200µm，棒为50µm×50µm，使用自定义单元格标记软件与手动校正。使用单向ANOVA测量并比较成像过程中的光感受器密度和间距。
结果：AOSLO显示弟弟在8个月后中央凹锥体密度下降了30％，随后在28个月时完全丧失中央凹锥;哥哥在基线时没有检测到中央凹锥。在周围黄斑，锥形和杆间距大于正常的两个患者。在所有偏心率中，圆锥体间距与杆间距之比大于法线，在靠近中央凹中心的地方有更大的分歧。
结论：锥体细胞丢失可能是Stargardt病的早期发病步骤。AOSLO提供了在Stargardt病中纵向跟踪个体光感受器变化的能力。
结论：Stargardt病的发病机制尚不清楚。我们使用高分辨率AOSLO来跟踪疾病的进展，并发现视锥细胞丢失可能是Stargardt病的早期发病步骤。
