Inversigations on the Etiology of Retinal Dystrohies

为了加深对视网膜营养不良的认识，我们进行了一些基础和临床研究。花生凝集素，一种凝集素，识别糖残基半乳糖<beta>1- 3 N-乙酰半乳糖胺，在电子显微镜水平上显示优先结合到猴视网膜的视锥光感受器和视锥相关的interphotoreceptor矩阵的质膜。PNA与视锥光感受器的优先结合不仅在视锥被卵细胞混合的周边视网膜中发现，而且在视锥光感受器在形态上类似于周边视杆光感受器的中央视网膜中也发现。牛眼球中岩藻糖基转移酶、半乳糖基转移酶和唾液酸转移酶活性的生物化学分析显示，视网膜中的活性相对较高，视网膜的黄斑视网膜中具有一些优势酶活性。将各种凝集素注入猴或大鼠视网膜下腔，可引起视网膜毒性或变性改变，其主要受累部位取决于所注射的凝集素类型。临床上，我们测定了经典型视网膜色素变性患者外周血淋巴细胞唾液酸转移酶和半乳糖基转移酶活性，发现唾液酸转移酶活性明显低于正常人，半乳糖基转移酶活性无变化。选择的锥营养不良患者血清抗体显示中枢神经系统衍生蛋白。一个家族性早发性视网膜色素变性，利伯氏先天性黑蒙，描述。对视网膜营养不良和各种视网膜疾病患者进行了一些心理物理学实验，特别是关于视锥细胞光密度的实验。

Some basic and clinical studies were carried out in order ot facilitate understanding of the features of retinal dystrophies. Peanut agglutinin, a lectin that recognizes the sugar residue galactose<beta>1-3N-acetylgalactosamine, was shown at the electron microscopic level to bind preferentially to the plasma membranes of the cone photoreceptors and cone-associated interphotoreceptor matrices of the monkey retina. The preferential PNA binding to the cone photoreceptor was found not only in the peripheral retina in which cones are intemingled by roes but also in the central retina in which the cone photoreceptor resembles in morphology the peripheral rod photoreceptor. A biochemical analysis of fucosyltransferase, galactosyltransferase and sialytransferase activities in bovine eyeballs revealed relatively high activities in the retina, with some dominant enzyme activities in the macular retion of the retina. Injections of various lectins into the subretinal space of monkey of rat retinas induced toxic or degenerative changes of the retina, the site of major involvement depending upon the type of lectin injected.Clinically, we measured sialyltransferase and galactosyltransferase activites of the peripheral lymphocytes in patients with classical retinitis pigmentosa, and found that the sialyltransferase activities are significanly low as compared with the mormal, with no alteration of galactoryltransferase activities.Selected patients with cone dystrophy showed in the serum antibodies sgainst central nervous system-derived proteins. A familial early-onset retinitis pigmentosa, Leber's congenital amaurosis, is described. Some psychophysical experiments with particular reference to the optical density of cone photoreceptor were cerried out on patients with retinal dystrophies and various retinal diseases.