Leber congenital amaurosis
I Perrault, JM Rozet, S Gerber, I Ghazi… - Molecular genetics and …, 1999 - Elsevier
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited
retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has
been suspected since the report by Waardenburg of normal children born to affected
parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13
and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the
photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein …
retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has
been suspected since the report by Waardenburg of normal children born to affected
parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13
and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the
photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein …