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 |
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 |
Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700).
|
30614359 |
2019 |
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 |
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 |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
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 |
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 |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the NR2E3-encoding gene cause various retinal degenerations, including Enhanced S-cone syndrome, retinitis pigmentosa, and Goldman-Favre disease.
|
24069298 |
2013 |
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 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 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the NR2E3-encoding gene cause various retinal degenerations, including Enhanced S-cone syndrome, retinitis pigmentosa, and Goldman-Favre disease.
|
24069298 |
2013 |
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 |
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
|
21364904 |
2011 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
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 |
Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a progressive retinal degeneration that frequently presents with night blindness and nummular pigment clumping around the vascular arcades and is caused by recessive mutations in the photoreceptor-specific NR2E3 transcription factor.
|
20171741 |
2010 |
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 |
UNIPROT |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
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 |