Puech J F, Renard G, Dufier J L, Blanck M F, Polliot L
Arch Ophtalmol (Paris). 1976 Apr;36(4):313-20.
The authors report 20 cases of a syndrome named nephronophtisis and probably the same as the syndrome of medullar cystic disease. In all cases systematic electroretinography is performed. Nine cases show important deterioration of the outline. These cases can be included in the syndrome of Senior-Loken. The pathogenesis and familial character of this disease are discussed. The disturbances that appeared between the ocular and renal lesions suggest that there are probably two genes rather than a single pleiotropic gene.
作者报告了20例名为肾单位肾痨的综合征病例，可能与髓质囊性疾病综合征相同。所有病例均进行了系统的视网膜电图检查。9例显示轮廓有重要的恶化。这些病例可归入Senior-Loken综合征。本文讨论了该疾病的发病机制和家族特征。眼部和肾脏病变之间出现的紊乱表明可能存在两个基因，而非单个多效基因。
