Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1993

AUTHORS

Hélène Dollfus , Jean-Michal Rozet , Oliver Delrieu , Alain Vignal , Imhad Ghazi , Jean-Louis Dufier , Marie-Geneviève Mattei , Jean Weissenbach , Jean Frézal , Josseline Kaplan , Arnold Munnich

ABSTRACT

Leber’s congenital amaurosis (LCA), originally described by Leber in 1869, is an autosomal recessively inherited congenital retinal blindness (OMIM 204000, 204001). LCA has been regarded as one of the most frequent cause of blindness in institutions for visually handicaped children,10% to 20% of the children being affected by this disease (Alström, 1957). LCA is clinically considered as a separate entity from retinitis pigmentosa and is characterized by its precocity and severity (Foxman, 1985). The diagnosis is usually made at birth or during the first months of life when a child presenting signs of very severely impaired vision is found to have an extinguished electro-retinogram (ERG) (Franchescetti, 1954). More... »

PAGES

143-152

Book

TITLE

Retinal Degeneration

ISBN

978-1-4613-6294-4
978-1-4615-2974-3

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4615-2974-3_14

DOI

http://dx.doi.org/10.1007/978-1-4615-2974-3_14

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1003532740


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