[Hereditary chorioretinal degeneration and nephronophthisis. The role of Senior-Löken syndrome].
Systematic clinical ocular examinations completed by electrophysiological studies were performed on fifty-five children with nephronophthisis. Twenty children, all under ten years of age, had tapetoretinal degeneration, either pure in fourteen cases (Senior-Löken syndrome), either associated with extra-oculorenal abnormalities in six cases (bones, liver, neurology). Twelve older children had a normal examination. Twenty-three children had a normal clinical examination, but non evolutive alterations of ERG.
Orssaud
C
C
Kleinknecht
C
C
Habib
R
R
Broyer
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
Hérédodégénérescence choriorétinienne et néphronophtise. Place du syndrome de Senior-Löken.