|
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 |
Biomarker
|
group |
BEFREE |
This report reviews the experience of the Ocular Genetics Service at Cleveland Clinic Abu Dhabi with clinically diagnosed ABCA4-related retinopathy in Emirati patients who underwent genetic testing.
|
31318848 |
2019 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Eighty eyes of 40 patients with ABCA4-related retinopathy were examined.
|
30657522 |
2019 |
|
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 |
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 |
Noncoding pathogenic variants, novel structural variants, and a common hypomorphic allele of the ABCA4 gene explain the majority of unsolved cases with ABCA4-associated disease, rendering this retinopathy a model for missing heritability in autosomal recessive disorders.
|
30670881 |
2019 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Eight children with ABCA4-associated retinopathy without macular atrophy were identified.
|
29310964 |
2018 |
|
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 |
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 |
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 |
The results indicate choroidal alterations in widespread ABCA4-related retinopathy, especially when associated with atrophy of the RPE.
|
27414126 |
2017 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Nevertheless, all-trans-retinal dimer (atRAL dimer) was found to be much more abundant than that of A2E in eyes of Abca4-/-Rdh8-/- double-knockout (DKO) mice, a rodent model showing the typical characteristics of retinopathies in AMD patients.
|
28192797 |
2017 |
|
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 |
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 |
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 |
One parent with ABCA4-related retinopathy and increased qAF carried an additional ABCA4 mutation, explaining the phenotype under a recessive disease model (pseudodominance).
|
26720470 |
2015 |
|
Retinal Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
To identify retinal-disease-associated genes, we performed exome sequencing in 28 individuals with "cone-first" retinal disease and clinical features atypical for ABCA4 retinopathy.
|
24791901 |
2014 |
|
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 |
The presence of 2 distinct phenotypes of Stargardt disease (foveal sparing and foveal atrophy) suggests that there may be more than 1 disease mechanism in ABCA4 retinopathy.
|
23953153 |
2013 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders.
|
23918662 |
2013 |
|
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 |
Biomarker
|
group |
BEFREE |
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.
|
22247458 |
2012 |
|
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 |
Biomarker
|
group |
BEFREE |
Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy.
|
21510770 |
2011 |