MCID: RP6003
MIFTS: 10

Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Aliases & Classifications for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

MalaCards integrated aliases for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

Name: Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 24
Rpe65-Related Lca/eosrd 24

Summaries for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

MalaCards based summary : Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, also known as rpe65-related lca/eosrd, is related to leber congenital amaurosis 2 and leber congenital amaurosis. An important gene associated with Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy is RPE65 (Retinoid Isomerohydrolase RPE65). Affiliated tissues include eye and testes.

GeneReviews: NBK549574

Related Diseases for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

Diseases in the Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy family:

Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Diseases related to Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 2 10.5
2 leber congenital amaurosis 10.5
3 retinal degeneration 10.5
4 fundus dystrophy 10.5
5 learning disability 10.5
6 leber congenital amaurosis / early-onset severe retinal dystrophy 10.5
7 inherited retinal disorder 10.5

Graphical network of the top 20 diseases related to Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:



Diseases related to Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Symptoms & Phenotypes for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

Drugs & Therapeutics for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

Search Clinical Trials , NIH Clinical Center for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

Genetic Tests for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

Anatomical Context for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

MalaCards organs/tissues related to Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

40
Eye, Testes

Publications for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

Articles related to Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy:

(show all 44)
# Title Authors PMID Year
1
Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy. 24
30658988 2019
2
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. 24
30870047 2019
3
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. 24
30268864 2019
4
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. 24
29947567 2018
5
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy. 24
29869534 2018
6
Novel mobility test to assess functional vision in patients with inherited retinal dystrophies. 24
28697537 2018
7
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. 24
29033008 2018
8
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. 24
28712537 2017
9
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65. 24
27653967 2016
10
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. 24
27102010 2016
11
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 24
26626312 2016
12
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 24
25495949 2016
13
The clinical features of retinal disease due to a dominant mutation in RPE65. 24
27307694 2016
14
Improvement and decline in vision with gene therapy in childhood blindness. 24
25936984 2015
15
Long-term effect of gene therapy on Leber's congenital amaurosis. 24
25938638 2015
16
Improvement in vision: a new goal for treatment of hereditary retinal degenerations. 24
26246977 2015
17
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). 24
26656277 2015
18
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. 24
25030840 2014
19
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65. 24
25257057 2014
20
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. 24
23474247 2013
21
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. 24
23341635 2013
22
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 24
23878505 2013
23
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients. 24
24066033 2013
24
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. 24
20399883 2010
25
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 24
20437613 2010
26
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate. 24
19339306 2009
27
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. 24
19117922 2009
28
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. 24
18774912 2008
29
Leber congenital amaurosis: genes, proteins and disease mechanisms. 24
18632300 2008
30
Safety and efficacy of gene transfer for Leber's congenital amaurosis. 24
18441370 2008
31
Effect of gene therapy on visual function in Leber's congenital amaurosis. 24
18441371 2008
32
Human cone photoreceptor dependence on RPE65 isomerase. 24
17848510 2007
33
Genetic testing for inherited eye disease. 24
17296896 2007
34
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. 24
15837919 2005
35
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. 24
15288992 2004
36
An overview of Leber congenital amaurosis: a model to understand human retinal development. 24
15231395 2004
37
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. 24
12960219 2003
38
Recovery of visual functions in a mouse model of Leber congenital amaurosis. 24
11897783 2002
39
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. 24
11095629 2000
40
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. 24
10869443 2000
41
Relation of optical coherence tomography to microanatomy in normal and rd chickens. 24
9804149 1998
42
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 24
9501220 1998
43
Optical coherence tomography. 24
1957169 1991
44
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 61
31725251 2019

Variations for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

Expression for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

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Pathways for Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe...

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