Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
|
31443789 |
2019 |
Retinal Dystrophies
|
0.500 |
Biomarker
|
group |
BEFREE |
RPE65-associated Leber congenital amaurosis (LCA) is one of highly heterogeneous, early onset, severe retinal dystrophies with at least 130 gene mutation sites identified.
|
31572124 |
2019 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in RPE65 give rise to severe retinal dystrophies, most of which are associated with loss of protein function and recessive inheritance.
|
29659842 |
2018 |
Retinal Dystrophies
|
0.500 |
Biomarker
|
group |
BEFREE |
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy.
|
29869534 |
2018 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Voretigene neparvovec gene replacement improved functional vision in RPE65-mediated inherited retinal dystrophy previously medically untreatable.
|
28712537 |
2017 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Safety and efficacy have been shown in a phase 1 dose-escalation study involving a unilateral subretinal injection of a recombinant adeno-associated virus (AAV) vector containing the RPE65 gene (AAV2-hRPE65v2) in individuals with inherited retinal dystrophy caused by RPE65 mutations.
|
27375040 |
2016 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To present a detailed phenotypic and molecular study of two families with autosomal dominant RPE65-related retinal dystrophy.
|
27307694 |
2016 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Human RPE65 mutations cause a spectrum of blinding retinal dystrophies from severe early-onset disease to milder manifestations.
|
25972377 |
2015 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in retinoid isomerase, RPE65, or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in early childhood.
|
24664772 |
2014 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
|
23878505 |
2013 |
Retinal Dystrophies
|
0.500 |
Biomarker
|
group |
BEFREE |
Why some photoreceptors die, while others remain dormant: lessons from RPE65 and LRAT associated retinal dystrophies.
|
21268677 |
2011 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in RPE65 or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in early childhood.
|
21555576 |
2011 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The mammalian eye has been at the forefront of therapeutic trials based on gene augmentation in humans with an early-onset nonsyndromic recessive retinal dystrophy due to mutations in the retinal pigment epithelium-specific protein 65kDa (RPE65) gene.
|
20811160 |
2010 |
Retinal Dystrophies
|
0.500 |
Biomarker
|
group |
BEFREE |
Several RPE65 animal models including two different mouse models and a naturally occurring canine model have been thoroughly characterized to determine the mechanisms that underlie RPE65 associated retinal dystrophies.
|
19373675 |
2009 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations.
|
18599565 |
2008 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
|
18599565 |
2008 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in RPE65 lead to a spectrum of retinal dystrophies ranging from Leber's congenital amaurosis to autosomal recessive retinitis pigmentosa.
|
17933883 |
2008 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the RPE65 gene are associated with inherited retinal dystrophies with unknown mechanisms.
|
16754667 |
2006 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
RPE65 mutations are associated with inherited retinal dystrophies.
|
16828753 |
2006 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To characterize the spectrum of RPE65 mutations present in 453 patients with retinal dystrophy with an interest in understanding the range of functional deficits attributable to sequence variants in this gene.
|
11095629 |
2000 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
This RPE65 mutation, which appears to be quite restricted in its occurrence in Sardinia, leads to childhood onset severe retinal dystrophy or Leber congenital amaurosis.
|
11062306 |
2000 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
|
9801879 |
1999 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Here we report that the analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation (Pro363Thr), two point mutations affecting splicing (912 + 1G-->T and 65 + 5G-->A) and two small re-arrangements (ins144T and 831del8) on a total of nine alleles of five patients with arCSRD.
|
9326941 |
1997 |
Retinal Dystrophies
|
0.500 |
Biomarker
|
group |
CTD_human |
Here we report that the analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation (Pro363Thr), two point mutations affecting splicing (912 + 1G-->T and 65 + 5G-->A) and two small re-arrangements (ins144T and 831del8) on a total of nine alleles of five patients with arCSRD.
|
9326941 |
1997 |
Retinal Dystrophies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
|
9326941 |
1997 |