Leber congenital amaurosis: a genetic paradigm.

  title={Leber congenital amaurosis: a genetic paradigm.},
  author={Rando L. Allikmets},
  journal={Ophthalmic genetics},
  volume={25 2},
Leber congenital amaurosis (LCA; estimated prevalence 1 : 50,000-100,000) is an early-onset inherited cause of childhood blindness characterized by a severe retinal dystrophy immediately after birth. Variants in at least six genes, AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1, have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa and together account for less than 50% of all LCA cases. Genetically heterogeneous inheritance has complicated the molecular… CONTINUE READING
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