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Congenital blindness

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

Related topics

Related topics

2 relations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

Broader (1)

Fetal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Long-term effect of gene therapy on Leber's congenital amaurosis.
BACKGROUND Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely… 
Highly Cited
2012
Highly Cited
2012
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
OBJECTIVE To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using… 
Highly Cited
2009
Highly Cited
2009
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
Highly Cited
2009
Highly Cited
2009
Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital… 
Highly Cited
2008
Highly Cited
2008
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease… 
Highly Cited
2008
Highly Cited
2008
Effect of gene therapy on visual function in Leber's congenital amaurosis.
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium-specific 65-kD protein… 
Highly Cited
2008
Highly Cited
2008
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
Leber congenital amaurosis (LCA) is a group of autosomal recessive blinding retinal diseases that are incurable. One molecular… 
Highly Cited
2006
Highly Cited
2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been… 
Highly Cited
1998
Highly Cited
1998
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium. We examined all 14 exons of this… 
Highly Cited
1997
Highly Cited
1997
Mutations in RPE65 cause Leber's congenital amaurosis
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