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Abstract
More than half of all patients with confirmed mitochondrial disease develop sight-threatening complications.
- Mitochondrial genetic disorders impact oxidative phosphorylation and energy supply in cells, particularly affecting the eyes.
- Photoreceptors and retinal ganglion cells are among the most metabolically active cells, leading to early ophthalmic symptoms in mitochondrial disease.
- Key factors in vision loss include genetic variations, bioenergetic mechanisms, and the vulnerability of specific retinal cells.
- Clinical assessment involves distinguishing between different diagnoses and understanding the genetic underpinnings of the disease.
- Current treatments are primarily supportive, but emerging therapies such as idebenone and gene therapy may provide targeted interventions for eye-related symptoms.
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