Congenital blindness

Known as: BLINDNESS CONGENITAL, Blindness present at birth, Congenital amaurosis 
Blindness with onset at birth. [HPO:probinson]
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe… (More)
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Highly Cited
2012
Highly Cited
2012
OBJECTIVE To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using… (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
2006
Highly Cited
2006
Animal studies suggest that early visual deprivation can cause permanent functional blindness. However, few human data on this… (More)
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Highly Cited
2006
Highly Cited
2006
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been… (More)
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Review
1999
Review
1999
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for… (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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