Leber congenital amaurosis.

  title={Leber congenital amaurosis.},
  author={Isabelle Perrault and J. M. Rozet and Sylvie Gerber and Imad Ghazi and Corinne Leowski and Dominique Ducroq and Eric H Souied and J. L. Dufier and Arnold Munnich and Josseline Kaplan},
  journal={Molecular genetics and metabolism},
  volume={68 2},
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… CONTINUE READING
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Publications referenced by this paper.

Molecular genetics of Leber congenital amaurosis

FP Cremers, JA van den Hurk, AI. den Hollander
Citation on PubMed: • 2000