Disorder of the optic nerve
|
0.100 |
Biomarker
|
group |
BEFREE |
The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy.
|
31500643 |
2019 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This study expanded the OPA1 mutation spectrum, and our results showed that OPA1 mutation is another common cause of childhood-onset hereditary optic neuropathy in Chinese pediatric patients, especially those with disease onset during preschool age.
|
28081242 |
2017 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our results indicated that screening OPA1 mutation is needed for clinical diagnosis of patients with suspected optic neuropathy.
|
26867657 |
2017 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism.
|
25820230 |
2015 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In summary, we provide genetic and functional evidence that deep intronic mutations in OPA1 can cause optic atrophy and explain disease in a substantial share of families with unsolved inherited optic neuropathies.
|
24970096 |
2014 |
Disorder of the optic nerve
|
0.100 |
Biomarker
|
group |
BEFREE |
This study describes a clinical series of 40 patients from Saudi Arabia with a positive DOA phenotype (i.e., decreased visual acuity during the first 2 decades of life, temporal or global optic disc pallor, and absence of other neurological or ophthalmological diseases that could explain the optic neuropathy) who underwent molecular genetic testing for OPA1 (and, in some cases, for OPA3).
|
24051421 |
2013 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
|
21036400 |
2011 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deletions in the OPA1 gene were found in 10 patients presenting with phenotypic autosomal dominant optic neuropathy.
|
21457585 |
2011 |
Disorder of the optic nerve
|
0.100 |
Biomarker
|
group |
BEFREE |
Nevertheless, OPA1 is known to affect mitochondrial stability and has now been implicated in several spontaneous optic neuropathies.
|
21552501 |
2011 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This review focuses on OPA1, one of the few known actors of inner membrane dynamics, whose mutations provoke an optic neuropathy.
|
20045077 |
2010 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.
|
19900585 |
2010 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
|
19319978 |
2009 |
Disorder of the optic nerve
|
0.100 |
Biomarker
|
group |
BEFREE |
OPA1 gene sequencing in patients with hereditary optic neuropathies indicates that the clinical spectrum of ADOA is larger than previously thought.
|
19389487 |
2009 |
Disorder of the optic nerve
|
0.100 |
Biomarker
|
group |
LHGDN |
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
|
18222991 |
2008 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
LHGDN |
These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation.
|
18360822 |
2008 |
Disorder of the optic nerve
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Reversible optic neuropathy with OPA1 exon 5b mutation.
|
18360822 |
2008 |
Disorder of the optic nerve
|
0.100 |
Biomarker
|
group |
BEFREE |
/aims: In normal tension glaucoma (NTG) factors other than raised intraocular pressure have a role in the pathogenesis of the optic neuropathy.
|
15031162 |
2004 |