本文研究了79名Alport综合征病人。Alport综合征的诊断是根据在先证者或家族中最少有一名患过家族性肾炎和神经性耳聋而作出的。12名有黄斑周围改变的病人作了视力和色觉及视野研究,其中8名作了荧光血管造影,7名作了视网膜电流图、暗适应以及眼电图检查。47名作肾脏活检,其中的41例作了电镜检查。 This article studied 79 Alport syndrome patients. Alport syndrome is diagnosed on the basis of at least one of the probands or family members who have had familial nephritis and neurological deafness. Twelve patients with macular changes were evaluated for visual acuity and color vision as well as field of vision. Eight of them underwent fluorescein angiography and seven underwent retinal current pattern, dark adaptation, and electrooculography. Forty-seven kidney biopsies, of which 41 were electron microscopy.