Beijing Tongren Eye Center, Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, National Engineering Research Center for Ophthalmology, Beijing, China.
Department of Ophthalmology, Jiangsu Province Hospital and Nanjing Medical University First Affiliated Hospital, Nanjing, China.
Retina. 2024 Aug 1;44(8):1403-1412. doi: 10.1097/IAE.0000000000004104.
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.
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.
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.
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.
利用自适应光学扫描激光检眼镜研究 1 型斯塔加特病患者的光感受器细胞嵌合体的时间变化序列。
2 名经基因确诊的 1 型斯塔加特病兄弟接受了全面的眼科检查、频域光相干断层扫描、眼底自发荧光和自适应光学扫描激光检眼镜成像，共 3 次，历时 28 个月。从中央凹向下至 10°获得锥体细胞和杆体细胞的共焦图像。使用带有手动校正的自定义细胞标记软件，在 200µm×200µm 的 100µm 间隔的采样窗口中对锥体细胞和 50µm×50µm 的杆体细胞进行计数。在整个成像过程中，使用单向方差分析比较各次测量的结果。
自适应光学扫描激光检眼镜显示，弟弟在 8 个月后，黄斑中心凹的锥体细胞密度下降了 30%，随后在 28 个月时完全丧失了黄斑中心凹的锥体细胞；哥哥在基线时就已经没有可检测到的黄斑中心凹锥体细胞。在周边黄斑区，两名患者的锥体细胞和杆体细胞间距均大于正常。在所有偏心位置，锥体细胞间距与杆体细胞间距的比值均大于正常，且在更靠近黄斑中心的位置有更大的发散。
锥体细胞的丢失可能是斯塔加特病的早期发病机制。自适应光学扫描激光检眼镜为跟踪斯塔加特病患者的单个光感受器的纵向变化提供了能力。
