|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Results</b>: A 17-year-old boy with previously diagnosed LCA/early-onset retinal dystrophy (EOSRD), with subsequently identified biallelic mutations in RDH12 was found to have type 2 CNV.
|
31424981 |
2019 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RDH12 have been linked to Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa.
|
31505163 |
2019 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All patients with LCA and two of the three individuals with EORD had biallelic mutations in RPE65; one child with EORD had a homozygous RDH12 mutation.
|
30870047 |
2019 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.
|
28513254 |
2017 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA.
|
28471114 |
2017 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In these Chinese patients, variants in GUCY2D are the most common cause of LCA (16.1% cases), followed by CRB1 (11.5%), RPGRIP1 (8%), RPE65 (5.7%), SPATA7 (4.6%), CEP290 (4.6%), CRX (3.4%), LCA5 (2.3%), MERTK (2.3%), AIPL1 (1.1%), and RDH12 (1.1%).
|
21602930 |
2011 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report 2 patients with a clinical phenotype of LCA associated with novel mutations of the RDH12 gene.
|
20736127 |
2010 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found that Rdh12 mutant proteins associated with LCA were inactive or displayed only residual activity when expressed in COS-7 and Sf9 cells, whereas those mutants that were considered polymorphisms were fully active.
|
17512964 |
2007 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.
|
17389517 |
2007 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
RDH12 is involved in retinal degeneration in Leber's congenital amaurosis (LCA).
|
17512723 |
2007 |