Electrophysiologic study of the visual system in familial juvenile nephronophthisis and tapetoretinal dystrophy

Electrophysiologic and psychophysical examination of the visual system were performed in a consanguineous family consisting of parents and 6 children. Two siblings among the 6 were affected by nephronophthisis. One of these suffered also from tapetoretinal dystrophy confirmed by electroretinography and electrooculography. In the other one, ERG revealed scotopic impairment resembling Riggs type nyctalopia. In 2 other healthy siblings, as well as in their healthy parents, the ERG showed a similar scotopic impairment. This finding was confirmed also in the parents by psychophysical measurements. It seems that the scotopic impairment of these healthy patients is connected to the heterozygotic status. (18 references.)