Review and update on the molecular basis of Leber congenital amaurosis.

@article{ChacnCamacho2015ReviewAU,
  title={Review and update on the molecular basis of Leber congenital amaurosis.},
  author={{\'O}scar Francisco Chac{\'o}n-Camacho and Juan Carlos Zenteno},
  journal={World journal of clinical cases},
  year={2015},
  volume={3 2},
  pages={112-24}
}
Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind of these diseases accounting for approximately 5% of the whole retinal dystrophies and 20% of the children that study on blind schools. Clinical ophthalmologic findings including severe vision loss, nystagmus and ERG abnormalities should be suspected through the first year of life in this group of patients. Phenotypic… CONTINUE READING
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