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Ophthalmological Findings in Infantile Type of Neuronal Ceroid-Lipofuscinosis

Published online by Cambridge University Press:  01 August 2014

Christina Raitta  and
Pirkko Santavuori
Christina Raitta*
Affiliation:
Eye Hospital and Children's Hospital, University of Helsinki, Finland
Pirkko Santavuori
Affiliation:
Eye Hospital and Children's Hospital, University of Helsinki, Finland
*
Helsinki University Eye Hospital, Haartmaninkatu 4c, 00260 Helsinki 26, Finland

Abstract

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A new entity which belongs to the neuronal ceroid-lipofuscinoses has been delineated. The essential ophthalmologic features were absence of the ERG and progressive tapetoretinal degeneration leading to blindness at the age of 2 years. Electroretinography and fluoresceinangiography are of major importance for the diagnosis. The primary site of the retinal lesion seems to be the receptors and the pigment epithelium.

Type
5. Free Contributions: First Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 193 - 195
Copyright
Copyright © The International Society for Twin Studies 1974

References

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