|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
|
0.710 |
GeneticVariation
|
BEFREE |
The Arg172Trp (R172W) peripherin/RDS mutation has been previously reported to cause a fully penetrant progressive macular dystrophy with high intrafamilial and interfamilial consistency of phenotype.
|
16019073 |
2005 |
|
Disorder of macula of retina
|
|
0.710 |
GeneticVariation
|
BEFREE |
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
|
9010868 |
1996 |
|
Disorder of macula of retina
|
|
0.710 |
GeneticVariation
|
CLINVAR |
|
|
|
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
MACULAR DYSTROPHY, PATTERNED, 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Age related macular degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
|
24463884 |
2014 |
|
Age related macular degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions.
|
19262438 |
2009 |
|
Age related macular degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
One mutation in exon 1, R172W, has been described previously in other ethnic groups as causing a macular degeneration.
|
10193525 |
1998 |
|
Age related macular degeneration
|
|
0.040 |
GeneticVariation
|
BEFREE |
The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy.
|
8747448 |
1995 |
|
Macular degeneration
|
|
0.020 |
GeneticVariation
|
BEFREE |
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
|
24463884 |
2014 |
|
Macular dystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
|
19262438 |
2009 |
|
Hereditary macular dystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
|
19262438 |
2009 |
|
Macular degeneration
|
|
0.020 |
GeneticVariation
|
BEFREE |
One mutation in exon 1, R172W, has been described previously in other ethnic groups as causing a macular degeneration.
|
10193525 |
1998 |
|
Hereditary macular dystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy.
|
8747448 |
1995 |
|
Macular dystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy.
|
8747448 |
1995 |
|
Chorioretinal atrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
In patients with the Arg172Trp substitution, the increase in total area of chorioretinal atrophy and decline in visual acuity showed significant association with age (R2 = 0.619, P < 0.001; R2 = 0.761, P < 0.001).
|
19262438 |
2009 |
|
Geographic Atrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Total area of geographic atrophy in 18 affected individuals with the peripherin/RDS Arg172Trp substitution was measured from retinal photographs and plotted as a function of age.
|
19262438 |
2009 |
|
Autosomal dominant retinitis pigmentosa
|
|
0.010 |
GeneticVariation
|
BEFREE |
To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene.
|
9810570 |
1998 |