Tucker G S, Jacobson S G
Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute, Florida 33101.
Retina. 1988;8(1):30-41. doi: 10.1097/00006982-198808010-00007.
The retina from the postmortem donor eye of a 64-year-old man with advanced autosomal dominant retinitis pigmentosa (RP) was studied with light and electron microscopy. Two children of the donor were tested with two-color, dark-adapted static perimetry and found to have Type 1 or D-type RP, the psychophysical subtype with early onset of severe rod dysfunction diffusely affecting the entire retina. In the macula of the donor retina, rods and cones were clustered in irregularly shaped patches, in association with pigmented retinal pigmented epithelial cells. Only cones in the middle of these patches possessed outer segments, and these were poorly organized. Of the few photoreceptors remaining outside of the macula, those in the superior retina had well-formed terminals and appeared to be rods. Rods were also observed superior to the disk and in the temporal mid-periphery. The few photoreceptors remaining in the inferior retina were also rod-like, but had less well-formed terminals. The retinal pigmented epithelium was relatively normal near surviving photoreceptors, but was depigmented, had thinned, or was absent in regions of photoreceptor dropout. These findings represent the first reported morphology of the retina from an eye donor with known psychophysical subtype of RP.
对一名64岁患有晚期常染色体显性遗传性视网膜色素变性（RP）男性尸体供体眼的视网膜进行了光镜和电镜研究。对供体的两个孩子进行了双色暗适应静态视野检查，发现他们患有1型或D型RP，这是一种心理物理学亚型，早期即出现严重的视杆功能障碍，广泛影响整个视网膜。在供体视网膜的黄斑区，视杆和视锥细胞聚集成不规则形状的斑块，与色素性视网膜色素上皮细胞相关。这些斑块中间只有视锥细胞具有外节，且排列紊乱。在黄斑区以外残留的少数光感受器中，视网膜上方的那些具有形态良好的终末，似乎是视杆细胞。在视盘上方和颞侧周边也观察到视杆细胞。视网膜下方残留的少数光感受器也呈杆状，但终末形态较差。在尚存光感受器附近，视网膜色素上皮相对正常，但在光感受器缺失区域色素脱失、变薄或缺失。这些发现代表了首次报道的具有已知RP心理物理学亚型的眼供体视网膜形态。
