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The Importance of Retinal Electrophysiology in Ceroid Lipofuscinosis

Published online by Cambridge University Press:  01 August 2014

B. Stanescu*
Affiliation:
Clinique Ophtalmologique de l'Université de Louvain, Belgique
M. Spiritus
Affiliation:
Clinique Ophtalmologique de l'Université de Louvain, Belgique
J. Michiels
Affiliation:
Clinique Ophtalmologique de l'Université de Louvain, Belgique
*
Service d'Ophtalmologie, Academisch Ziekenhuis St. Rafael, Capucijnevoer 7, Louvain, Belgium

Abstract

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The two types of amaurotic idiocy, gangliosidosis and ceroid lipofuscinosis, are characterized by biochemical, ultrastructural, and electrophysiological differences. They are in fact two different clinical entities, both resulting from a congenital metabolic trouble.

Six clinical cases of ceroid lipofuscinosis are presented and the diagnostic importance of the ERG is stressed.

Type
8. Free Contributions: Fourth Group
Copyright
Copyright © The International Society for Twin Studies 1974

References

BIBLIOGRAPHIE

Bolmers, D., Gabreëls, F., Joosten, E., Gabreëls Testen, A. 1973. Ceroid lipofuscinosis (Batten's disease). First ophthalmological report of cytoplasmic inclusions with an amaurotic familial idiocy. Acta Ophthalmol. (Kbh.), 51: 4757.Google Scholar
Carpenter, S., Karpati, G., Andermann, F. 1972. Specific involvement of muscle nerve and skin in late infantile and juvenile amaurotic idiocy. Neurology (Minneap.), 22: 170186.Google Scholar
Duffy, E., Kronfeld, M., Suzuki, K. 1968. Neurovisceral storage disease with curvilinear bodies. J. Neuropathol. Exp. Neurol., 27: 351370.Google Scholar
Eisner, B., Prensky, A. 1969. Ultrastructure of rectal biopsies in juvenile amaurotic idiocy. Neurology (Minneap.), 19: 837838.Google Scholar
Franceschetti, A., Dieterle, P. 1957. Die differential diagnostische Bedeutung das Elektroretinogramms bei tapeto-retinalen Degeneration. Bibl. Ophthalmol., 48: 161.Google Scholar
Gonatas, M., Gambetti, P., Baird, H. 1968. A second type of late infantile amaurotic idiocy with multilamellar cytosomes. J. Neuropathol. Exp. Neurol., 27: 371375.Google Scholar
Gonatas, M., Gambetti, P., Tucker, S., Evangelista, J., Baird, H. 1969. Cytoplasmic inclusions in juvenile amaurotic idiocy. J. Pediatr., 75: 796805.Google Scholar
Zeman, W., Alpert, M. 1963. On the nature of the «stored» lipid substance in juvenile amaurotic idiocy (Batten-Spielmeyer-Vogt). Ann. Histochim., 8: 255257.Google Scholar