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Peripapillary capillary network in dominant optic atrophy linked to OPA1 gene
Miriam Rahhal-Ortuño1, Juan Aurelio Aviñó-Martínez1, Alex Samir Fernández-Santodomingo1
1Department of Ophthalmology, Hospital Universitari i Politecnic La Fe, Valencia, Valencian Community, Spain.
European Journal of Ophthalmology
|September 6, 2021
Summary
Optical coherence tomography angiography revealed changes in the peripapillary capillary network of siblings with OPA-1 dominant optic atrophy. This study offers new insights into this rare condition.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Dominant optic atrophy (DOA) is a group of inherited optic neuropathies.
- Mutations in the OPA-1 gene are a common cause of dominant optic atrophy.
- The peripapillary capillary network in OPA-1 related DOA is not well understood.
Purpose of the Study:
- To analyze the peripapillary capillary network in siblings with OPA-1 gene mutation using optical coherence tomography angiography (OCT-A).
- To contribute to the limited knowledge regarding the vascular changes in the optic nerve head in this specific type of optic atrophy.
Main Methods:
- Optical coherence tomography angiography (OCT-A) was employed to image the peripapillary microvasculature.
- Two siblings diagnosed with dominant optic atrophy due to OPA-1 gene mutation were included in the analysis.
Main Results:
- Detailed analysis of the peripapillary capillary network was performed using OCT-A.
- The findings provide specific data on the vascular structure in the affected individuals.
Conclusions:
- This study provides novel insights into the peripapillary capillary network in OPA-1 related dominant optic atrophy.
- Further research is warranted to elucidate the role of vascular changes in the pathogenesis of this condition.
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