Leber Congenital Amaurosis

Known as: Leber Abiotrophy, Congenital Retinal Blindness, amaurosis leber's congenital 
A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be… (More)

Topic mentions per year

Topic mentions per year

1937-2018
020406019372017

Papers overview

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2012
2012
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss… (More)
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Highly Cited
2010
Highly Cited
2010
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Gene therapy has the potential to reverse disease or prevent further deterioration of vision in patients with… (More)
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Highly Cited
2009
Highly Cited
2009
Human gene therapy with rAAV2-vector was performed for the RPE65 form of childhood blindness called Leber congenital amaurosis… (More)
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Highly Cited
2008
Highly Cited
2008
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease… (More)
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Highly Cited
2008
Highly Cited
2008
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium-specific 65-kD protein… (More)
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Highly Cited
2008
Highly Cited
2008
Leber congenital amaurosis (LCA) is a group of autosomal recessive blinding retinal diseases that are incurable. One molecular… (More)
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Highly Cited
2001
Highly Cited
2001
Leber congenital amaurosis (LCA) is the most serious form of the autosomal recessive childhood-onset retinal dystrophies… (More)
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Highly Cited
1998
Highly Cited
1998
RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium. We examined all 14 exons of this… (More)
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Highly Cited
1996
Highly Cited
1996
Leber's congenital amaurosis (LCA, MIM 2040001), the earliest and most severe form of inherited retinopathy, accounts for at… (More)
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