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在所有已知为单个基因传代而致盲的人类遗传病中,视网膜色素变性最为常见。典型视网膜色素变性的临床表现症状:夜盲及周边进行性视野缩小,是两个最常见的症状;还可有中纬部环形暗点。这些症状常在11~20岁明显,但有时出现在童年早期。最后中心视力丧失。在中心视力受害以前,病人可能觉察色觉减退。所有这些症状逐渐日趋显著,表示此病发展的特性。眼底表现:骨细胞样色素播散、细窄的视网膜血管及蜡样苍白的视乳头是视网膜色素变性的眼底典型三联征。在作者1970年以前所分析的300例中,93%有某些类型的色素改变,35%有典型的“骨细胞”样色素,87%有细窄的血管,65%有视乳头异常。用立体眼底检查法包括立体
In all human genetic diseases that are known to be blinded by the passage of a single gene, retinitis pigmentosa is most common. Typical clinical manifestations of retinitis pigmentosa symptoms: night blindness and the surrounding narrowing of the visual field, is the two most common symptoms; also have a ring-shaped dark spots in the mid-latitude. These symptoms are often obvious in 11 to 20 years old, but sometimes appear early in childhood. The last center of vision loss. Prior to the visual impairment in the center, the patient may perceive a decrease in color vision. All of these symptoms are increasingly significant, indicating the developmental characteristics of the disease. Fundus manifestations: osteoblast-like pigment disseminated, narrow retinal vessels and wax-like pale papilla is a typical triad of retinitis pigmentosa. Of the 300 cases analyzed by the authors prior to 1970, 93% had some type of pigmentation changes, 35% had typical “bone cell” -like pigments, 87% had narrowed blood vessels and 65% had optic nerve abnormalities. Stereoscopic examination with stereoscopic