[Electroretinography in nephronophthisis. Role of the Senior-Loken syndrome].
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.
D000293:Adolescent; D001766:Blindness / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D013577:Syndrome
L'électrorétinogramme dans la néphronophtise. Place du syndrome de Senior-Loken