Dominantly inherited retinitis pigmentosa. Ultrastructure and biochemical analysis.
Dominantly inherited retinitis pigmentosa. Ultrastructure and biochemical analysis.
复制标题
显性遗传性视网膜色素变性。
DOI：
10.1016/s0161-6420(85)33895-2
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发表时间：
1985
期刊：
影响因子：
13.7
通讯作者：
G. Chader
中科院分区：
文献类型：
--
作者：
Merlyn M. Rodrigues;B. Wiggert;Joseph Hackett;L. Lee;R. Fletcher;G. Chader
一名 66 岁的白人患有显性视网膜色素变性。他的视野逐渐受限、夜盲症、视盘苍白、色素性视网膜病变和后囊下白内障。眼睛的尸检包括电子显微镜检查以及环核苷酸和光感受器间视黄醇结合蛋白（IRBP）的生化分析。除中央凹和周边外，视网膜显示出广泛的神经胶质增生和神经元损失，并伴有感光细胞损失。在视网膜色素上皮（RPE）缺失的区域，脉络膜毛细血管被不同程度地闭塞。在某些地方，色素上皮侵入视网膜直至内界膜水平。生化分析显示，光感受器间视黄酸结合蛋白（IRBP）是光感受器间空间的一种重要糖蛋白，即使在光感受器细胞仍然存在的视网膜区域也几乎不存在。环核苷酸测定表明环 GMP 浓度下降，这反映了光感受器元件的总体损失。另一方面，所有测试的视网膜区域的环磷酸腺苷水平都异常升高，表明该核苷酸可能参与该疾病的发病机制。
A 66-year-old white man had dominant retinitis pigmentosa. He developed progressive restriction of his visual field, night blindness, pallor of the optic discs, pigmentary retinopathy and posterior subcapsular cataracts. Postmortem examination of the eyes included electron microscopy and biochemical analysis of cyclic nucleotides and interphotoreceptor retinoidbinding protein (IRBP). Except for the fovea and periphery, the retina showed extensive gliosis and neuronal loss with loss of photoreceptor cells. The choriocapillaris was variably occluded in the regions of absent retinal pigment epithelium (RPE). In places, the pigment epithelium invaded the retina to the level of the internal limiting membrane.Biochemical analysis revealed that the interphotoreceptor retinoid-binding protein (IRBP), an important glycoprotein of the interphotoreceptor space, was virtually absent even in retinal areas where photoreceptor cells were still present. Cyclic nucleotide determinations indicated a decrease in the cyclic GMP concentration that reflected the general loss of photoreceptor elements. On the other hand the cyclic AMP levels in all retinal areas tested were abnormally elevated, indicating the possible involvement of this nucleotide in the pathogenesis of the disease.
影响因子：
13.7
作者：
Meyer,KT;Heckenlively,JR;Spitznas,M;Foos,RY
通讯作者：
Foos,RY
影响因子：
1.2
作者：
Kartasasmita, Arief;Fujiki, Keiko;Murakami, Akira
通讯作者：
Murakami, Akira