|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Electroretinography responses of both patients were dominated by short-wavelength-sensitive mechanisms, with no detectable rod function, similar to the ERG responses of individuals with enhanced S-cone syndrome (ESCS) due to NR2E3 mutations.
|
27732723 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
|
29971438 |
2018 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod dysfunction.
|
30466340 |
2019 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal.
|
11487564 |
2001 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR2E3 are associated with enhanced S-cone syndrome and related retinal phenotypes that reveal characteristic excess of S-cone function.
|
19898638 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other mutations of NR2E3 have previously been shown to cause autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype.
|
17564971 |
2007 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results showed that NR2E3 mutations localized in LBD induce ESCS disease without affecting inhibitory activity as recorded in vitro.
|
17438525 |
2007 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study is to report the ophthalmic features of a 25-year-old Portuguese male with a typical ESCS phenotype and a novel homozygous NR2E3 mutation.
|
20725840 |
2011 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q.
|
11773633 |
2002 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The authors previously reported details on enhanced S-cone syndrome (ESCS) in a 23-year-old male patient with a homozygous NR2E3 mutation (p.Q350X) who developed large bilateral macular retinoschisis.
|
26878455 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
|
27522502 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
|
12963616 |
2003 |
|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results demonstrate the involvement of NR2E3 in enhanced S-cone syndrome and retinitis pigmentosa phenotypes in our populations.
|
19273793 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two novel NR2E3 mutations are described that are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome.
|
19139342 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human NR2E3 are associated with several retinal degenerations including enhanced S cone syndrome and retinitis pigmentosa.
|
24498227 |
2014 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
S-cone perimetry data from <i>NR2E3</i>-ESCS (enhanced S-cone syndrome) patients were examined and determined to have five stages of disease severity.
|
31117170 |
2019 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
|
21364904 |
2011 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To determine the relationship between cone deactivation kinetics in patients with the enhanced S cone syndrome (ESCS) caused by mutations in NR2E3 and the immunoreactivity to G-protein-coupled receptor kinase 1 (GRK1) and GRK7.
|
12601058 |
2003 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
|
17601449 |
2007 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The p.E121K variant of NR2E3, which reportedly caused enhanced S-cone syndrome (ESCS) in Caucasians, was found concurrently in RP patients (13.4%) and control subjects from Hong Kong (10.5%) and Beijing (12.8%).
|
19933183 |
2010 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations.
|
23989059 |
2013 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice.
|
19429590 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of enhanced S-cone syndrome was suggested by the uniquely abnormal electroretinographic pattern and was confirmed by the finding of homozygous NR2E3 mutations.
|
23039133 |
2013 |