一个遗传性视力障碍大家系的临床研究

【目的】明确遗传性视力障碍的鉴别诊断及高度近视的临床特征。【方法】对一个家系五代共35名成员中15例视力障碍者进行眼科全面检查。【结果】15位患者均因高度近视视力下降，可以矫正15例；5例有红绿色觉缺失，5例眼底检查显示以弥漫性视网膜脉络膜萎缩，色素沉着，动静脉变细，颞侧弧形斑，豹纹状眼底为特征的近视改变；11例视野异常；11例患者视网膜电图（FERG）检查出现视杆细胞的暗适应异常和视锥细胞的反应受损；8例视觉诱发电位（F-VEP）检查潜伏期均延长，视觉传导功能障碍。【结论】该家系高度近视为常染色体不完全显性遗传。近视程度随年龄、屈光度增加而加重。眼底、视野、视觉电生理检查有其相应的特征，可为鉴别诊断提供客观依据。

Clinical Study on a Large Chinese Family With Heritage Visual Disorder

Objective] To make sure the differential diagnosis of heritage visual disorder and clinical lea tures of high myopia. Methods] The family contained five generations and 32 people in total . The physical exam, neurological exam and visual check were performed for them. Among the 32 people, 15 had visual dis order. Results]The eyesight degression of 15 people was caused by high myopia. After visual rectification, all of them had good eyesight. Five of them were red-green blindness, eleven of them had abnormal visual field and eight of them had long latent period disorder of visual conduction by flash visual evoked potential （F-VEP） examination. Optic fundus showed that five of them had diffused retinochoroid atrophy, pigmentation, the thinner of artery and vein, temperal conus and leopard fundus. All of these changes were coherent to the fea- tures of high myopia. F-ERG showed that eleven of them had dark adaptation disorder and reactive damage of retinal core cells. Conclusion]The heritage mode of the pedigree is autosomal dominant （AD）. High myopia will he getting worse with the increase of the age and diopter. Optic fundus changes are diffused retinochoroid atrophy, pigmentation, the thinner of artery and vein, temperalconusand leopard fundus. The changes of vis ual field are physiological blind spot expired, paracentral seotoma, relative scotoma of macula lutea, circular scotoma and diffused defect. The changes of F-VEP and F-ERG will be longer latent period and lower wave amplitude, and these changes will be earlier than those of optic fundus. Combination of vision and visual elec- trophysiology （F-ERG, F-VEP） for high myopia can find earlier the changes of occult fundus.