Leber congenital amaurosis: Genes, proteins and disease mechanisms

@article{Hollander2008LeberCA,
  title={Leber congenital amaurosis: Genes, proteins and disease mechanisms},
  author={A. I. Hollander and R. Roepman and R. Koenekoop and F. Cremers},
  journal={Progress in Retinal and Eye Research},
  year={2008},
  volume={27},
  pages={391-419}
}
Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the cases. Several of these genes have also been implicated in other non-syndromic or syndromic retinal diseases, such as retinitis… Expand
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