|
rs121434491
|
|
|
0.050 |
GeneticVariation |
BEFREE |
An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese.
|
27777122 |
2016 |
|
rs121434491
|
|
|
0.050 |
GeneticVariation |
BEFREE |
An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML).
|
25481286 |
2015 |
|
rs121434491
|
|
|
0.050 |
GeneticVariation |
BEFREE |
An R345W mutation in fibulin-3 causes its inefficient secretion, increased intracellular steady-state levels, and the macular dystrophy, Malattia Leventinese (ML), a disease similar to age-related macular degeneration.
|
23230284 |
2013 |
|
rs121434491
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This study highlights the mechanisms underlying the inefficient secretion of R345W EFEMP1 and demonstrates that alteration of the proteostasis network may provide a strategy to alleviate or delay the onset of this macular dystrophy.
|
22031286 |
2011 |
|
rs121434491
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The Arg345Trp mutation remains the only cause of Doyne hereditary macular dystrophy, also known as Malattia Leventinese or radial dominant drusen.
|
11384588 |
2001 |
|
rs1800553
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone.
|
31318848 |
2019 |
|
rs137853006
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.
|
28840994 |
2017 |
|
rs137853006
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
|
20393116 |
2010 |
|
rs61755792
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
|
19262438 |
2009 |
|
rs1800553
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
|
18024811 |
2007 |
|
rs61755792
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy.
|
8747448 |
1995 |
|
rs768435443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone.
|
31318848 |
2019 |
|
rs868349465
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two siblings with macular dystrophy carried compound heterozygous EYS variants: c.1299+5_1299+8del and c.6050G>T.
|
31074760 |
2019 |
|
rs1195312059
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genomic DNA was analyzed by targeted analysis of the c.133C>T;p.R45W mutation for all RP or macular dystrophy-related genes.
|
30025130 |
2018 |
|
rs267607017
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genomic DNA was analyzed by targeted analysis of the c.133C>T;p.R45W mutation for all RP or macular dystrophy-related genes.
|
30025130 |
2018 |
|
rs267607017
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genomic DNA was analyzed by targeted analysis of the c.133C>T;p.R45W mutation for all RP or macular dystrophy-related genes.
|
30025130 |
2018 |
|
rs1033920857
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Asp776Val and p.Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenic; they were probably responsible for macular dystrophy in these patients.
|
28095140 |
2017 |
|
rs146434364
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Asp776Val and p.Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenic; they were probably responsible for macular dystrophy in these patients.
|
28095140 |
2017 |