Mitochondrial Retinopathies and Optic Neuropathies: Role of Imaging in Diagnosis, Follow-up and Clinical Management

This paper aims to review the current understanding of mitochondrial retinopathies and optic neuropathies, with particular emphasis on the contribution of the main retinal and optic nerve imaging techniques. The article provides an overview of the key genetic and clinical features of these disorders and discusses how advanced imaging modalities have deepened our understanding of their underlying pathophysiology. Furthermore, it explores the application and interpretation of these imaging tools in the diagnosis, follow-up, and clinical management of affected patients. The advantages and limitations of these techniques are examined, with attention to how emerging therapeutic strategies, including gene-based treatments, may benefit from continued advances in ocular imaging.