Electroencephalographic and electroretinographic study of a family with Leber's congenital amaurosis
Paolozzi, C.; Fusco, G.; Amati, A.; Tata, M.R.; Iura, V.
Acta Neurologica 31(3): 280-290
1976
ISSN/ISBN: 0001-6276 PMID: 1015370 Document Number: 107623
A 13-member Italian family of which 4 were affected with Leber's congenital amaurosis, was investigated using EEG and electroretinography [ERG]. The ERGs were normal in the healthy subjects. The EEG study of the whole family showed a widespread disturbance of the electric activity, in the sense of a non-specific brain injury in the 4 affected members. In 3 clinically healthy females (the mother and 2 sisters), the EEG records were abnormal, showing pathological patterns comparable with each other. In the rest of the family, except the father with a narcoleptic-like record, EEG appeared normal but presented some morphological peculiarities also observed in the healthy members of the family.