Article
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Human mutation - 1 Apr 2004
Hanein Sylvain, Perrault Isabelle, Gerber Sylvie, Tanguy Gaëlle, Barbet Fabienne, Ducroq Dominique, Calvas Patrick, Dollfus Hélène, Hamel Christian, Lopponen Tuija, Munier Francis, Santos Louisa, Shalev Stavit, Zafeiriou Dimitrios, Dufier Jean-Louis, Munnich Arnold, Rozet Jean-Michel, Kaplan Josseline
Abstract excerpt
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an...
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