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rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Previously, we showed that dopaminergic expression of the human LRRK2-G2019S transgene in flies led to an activity-dependent loss of vision in older animals and we hypothesized that this may have been preceded by a failure to regulate neuronal activity correctly in younger animals.
|
24718285 |
2014 |
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The specificity of visual loss to G2019S, coupled with the differences in neural firing rate, provide an explanation for the variability between people with PD in visual tests.
|
23529190 |
2013 |
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rs104893768
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes vision loss.
|
29281027 |
2018 |
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rs1177783734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes vision loss.
|
29281027 |
2018 |
|
rs17822656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the combined analysis of GWAS and the replication study, no loci reached genome-wide significant level; however, we found four variants showed suggestive level of associations with visual loss at month three (rs17822656, rs76150532, rs17296444, and rs75165563: P<sub>combined</sub> < 1.0 × 10<sup>-5</sup>).
|
30054556 |
2018 |
|
rs763544450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Controlled delivery of tauroursodeoxycholic acid from biodegradable microspheres slows retinal degeneration and vision loss in P23H rats.
|
28542454 |
2017 |
|
rs121913059
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient with CFH R1210C was a 70-year-old woman whose main complaint was visual loss in the right eye.
|
26215151 |
2015 |
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rs121908150
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.
|
24501247 |
2014 |
|
rs1438303929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The c.1409 G > A (p.Arg470Gln) mutation, which was found homozygously in two sibs, was associated with a specific complex phenotype that included predominant visual loss due to optical nerve atrophy.
|
22964162 |
2012 |
|
rs756535079
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The c.1409 G > A (p.Arg470Gln) mutation, which was found homozygously in two sibs, was associated with a specific complex phenotype that included predominant visual loss due to optical nerve atrophy.
|
22964162 |
2012 |
|
rs11200638
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Drusen is characterized by deposits in the macula without visual loss and is an early AMD sign in the Caucasian population. rs11200638 in the promoter of HTRA1 has recently been shown to increases the risk for wet AMD in both Caucasian and Hong Kong Chinese populations.
|
17904186 |
2007 |
|
rs121434491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The phenotype in the group of patients positive for the R345W mutation was extremely variable, with evidence of interocular, intrafamilial, and interfamilial variability in visual loss, natural history, ophthalmoscopic findings, autofluorescence imaging, and psychophysical data.
|
16799055 |
2006 |