Inversigations on the Etiology of Retinal Dystrohies

为了更好地了解视网膜营养不良的特点，进行了一些基础和临床研究。PNA与视锥感受器的选择性结合，不仅见于视锥细胞受累的外周视网膜，也见于视锥感光细胞形态与视锥视杆感受器相似的中央视网膜。向猴视网膜下腔注射不同的凝集素可引起视网膜的毒性或变性改变，主要受累部位取决于所注射凝集素的类型。临床上，我们检测了经典型视网膜色素变性患者外周血淋巴细胞唾液酸基转移酶和半乳糖基转移酶的活性，发现唾液酸基转移酶活性明显低于正常对照组，而半乳糖基转移酶活性没有改变。报道一例家族性早发性视网膜色素变性，Leber‘s先天性黑色素沉着症。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实验，特别是视锥感光细胞的光密度。

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.