|
Retinal Diseases
|
0.200 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ABCA4 displays significant allelic heterogeneity whereby different mutations can cause retinal diseases with varying severity and age of onset.
|
23695285 |
2013 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies.
|
27939946 |
2017 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ABCA4 modeled structure provides a molecular basis on which to analyze protein sequence mutations related to genetic retinal disease in order to predict the risk of retinal disease across all possible ABCA4 mutations.
|
29049734 |
2017 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ABCA4 locus resequencing was followed by the analysis of other inherited retinal disease genes by whole exome sequencing (WES).
|
31721179 |
2020 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.
|
17982420 |
2007 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A commercial diagnostic array-based assay has been developed targeting known mutations, however a conclusive genetic diagnosis must rely on a comprehensive genetic screening as the mutation spectrum of ABCA4-related retinopathies continues to expand.
|
22229821 |
2012 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?
|
11384574 |
2001 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4) in Stargardt disease (STGD1) and other retinal dystrophies, we and others have developed a model in which the severity of retinal disease correlates inversely with residual ABCR activity.
|
11379881 |
2001 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Based on these data we estimate a prevalence of 31% for ABCA4 mutations in arCD and arCRD, supporting the concept that the ABCA4 gene is a major locus for various types of degenerative retinal diseases with abnormalities in cone or both cone and rod function.
|
18285826 |
2008 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies.
|
1610568 |
1992 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Disease in 11 patients was explained by mutations outside ABCA4, underlining the need to genotype all retinal disease genes to maximize genetic diagnostic rates.
|
25474345 |
2015 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Eight children with ABCA4-associated retinopathy without macular atrophy were identified.
|
29310964 |
2018 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Eighteen affected individuals from 13 families ascertained from a total cohort of 214 families with ABCA4-related retinal disease presenting to a single center.
|
23769331 |
2013 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Eighty eyes of 40 patients with ABCA4-related retinopathy were examined.
|
30657522 |
2019 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Four novel pathogenic variants, p.Gln636Lys, p.Ile1114del, p.Thr1117Ala, and p.Asn1588Tyr, were identified. p.Gln294Ter, p.Leu1157Ter, and p.Lys2049ArgfsTer12 were repeatedly detected in Koreans with <i>ABCA4</i>-associated retinal diseases (<i>ABCA4-</i>RD).
|
31814693 |
2019 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
|
24713488 |
2014 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Identification of ABCA4 retinopathies provides a specific molecular diagnosis and justifies a prompt introduction of simple precautions that may slow disease progression.
|
26593885 |
2016 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.
|
20661590 |
2010 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
In a further 5.9% of patients (n = 5), a single heterozygous ABCA4 variant was identified; all these participants had a spectrum of clinical features consistent with ABCA4 retinopathy.
|
28341476 |
2017 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In contrast, we report a statistically significant association of common variants in the ABCA4 gene with retinal disease, assessed by a score-based variance-component test (PSKAT = 0.0055).
|
25884411 |
2015 |
|
Retinal Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In-depth knowledge of the ABCR mutation spectrum in patients with Stargardt disease will provide for more efficient screening and may provide potential therapies for Stargardt disease and other retinal diseases.
|
10612508 |
1999 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Initial testing involved eight patients with central retinal disease (Stargardt disease, STGD) and eight with peripheral retinal disease (retinitis pigmentosa, RP), who were examined using fMRI and MP (Nidek MP-1).
|
29699983 |
2019 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.
|
22247458 |
2012 |