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Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
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|
|
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Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
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Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
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Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan.
|
11024425 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene.
|
17096061 |
2007 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disease caused by a R124H point mutation in the transforming growth factor-β-induced gene (TGFBI).
|
22374302 |
2012 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene.
|
27373828 |
2016 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
R124H mutation was detected in all patients with GCD2.
|
25034048 |
2015 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman.
|
15059726 |
2004 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2.
|
21311742 |
2011 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Both granular and lattice deposits are present in Avellino corneal dystrophy (ACD), primarily associated with the R124H mutation of transforming growth factor-β-induced (TGFBIp).
|
20697279 |
2010 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFBI, and four LCD I subjects were all associated with R124C heterozygous mutation.
|
21887843 |
2011 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation.
|
10832717 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor beta-induced gene [TGFBI]), highly reflective granular materials with irregular edges were observed in the superficial stroma.
|
17846354 |
2007 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%).
|
12225829 |
2002 |
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Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy type 2 (GCD2), identified as a TGFBI R124H mutation.
|
29192679 |
2018 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
One mutation, generating an arginine to histidine amino acid substitution at position 124 in mature TGFBIp leads to granular corneal dystrophy type 2 (GCD2).
|
26864644 |
2016 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our study demonstrated that a G>A transition in Arg124His of TGFBI was responsible for Avellino corneal dystrophy in a Chinese pedigree.
|
22194646 |
2011 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Primary culture corneal fibroblasts were isolated from the corneas of healthy subjects and patients with granular corneal dystrophy type 2 (GCD2) with a homozygous mutation in TGFBI R124H.
|
21310903 |
2011 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Screening for the TGF β-induced gene found the heterozygous p.R124H mutation associated with granular corneal dystrophy type 2 in each of the 4 individuals with corneal opacities as well as in a fifth individual who did not have any corneal opacities, for a prevalence of 0.24%.
|
29233738 |
2017 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated with CGLCD.
|
17317389 |
2007 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined.
|
11262611 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R124H keratoepithelin mutation is the same mutation recently reported to be responsible for Avellino corneal dystrophy.
|
9727418 |
1998 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
The detection of the R124H BIGH3 mutation confirmed the diagnosis of ACD in the reported families.
|
18465714 |
2008 |