eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | optic atrophy 1 |
| Comorbidity | C0029124|optic atrophy |
| Sentences | 13 |
| PubMedID- 23144624 | Mutations in opa1 are associated with dominant optic atrophy characterized by the progressive loss of retinal ganglion cells, highlighting the importance of opa1 function in neurons. |
| PubMedID- 26281626 | Reply: spastic paraplegia in 'dominant optic atrophy plus' phenotype due to opa1 mutation. |
| PubMedID- 20417568 | opa1 mutations associated with dominant optic atrophy influence optic nerve head size. |
| PubMedID- 24024178 | Sdoct thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to opa1 mutations. |
| PubMedID- 21646330 | Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to opa1 mutation. |
| PubMedID- 22197506 | Beside optic atrophy, about 20% of patients bearing opa1 mutations also develop additional neuromuscular complications, mostly including deafness, progressive external ophthalmoplegia and myopathy, starting from the third decade of life onwards [13]. |
| PubMedID- 22492563 | These deleterious consequences are strikingly reminiscent of the pathological features recently highlighted in brain for autosomal dominant optic atrophy due to opa1 mutations (amati-bonneau et al., 2008; hudson et al., 2008; yu-wai-man et al., 2010a). |
| PubMedID- 20157369 | Alu-element insertion in an opa1 intron sequence associated with autosomal dominant optic atrophy. |
| PubMedID- 25794858 | Using advanced mri techniques, we investigated the presence and topographical distribution of brain grey matter (gm) and white matter (wm) alterations in dominant optic atrophy (doa) patients with genetically proven opa1 mutation as well as their correlation with clinical and neuro-ophthalmologic findings. |
| PubMedID- 20837821 | Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to opa1 mutations. |
| PubMedID- 19969356 | Screening for opa1 gene mutations in patients with childhood onset optic atrophy who have no affected relatives is useful in making the diagnosis. |
| PubMedID- 20417570 | The prevalence and natural history of dominant optic atrophy due to opa1 mutations. |
| PubMedID- 21378995 | Pattern of retinal ganglion cell loss in dominant optic atrophy due to opa1 mutations. |
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