REVIEW article
Front. Neurol.
Sec. Neuro-Ophthalmology
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1609033
This article is part of the Research TopicOptic Neuropathies: Etiologies, Diagnosis, and TreatmentsView all 6 articles
Technological advances in the diagnosis and management of inherited optic neuropathies
Provisionally accepted
- 1University of Cambridge, Cambridge, United Kingdom
- 2Eye Clinic, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
- 3Moorfields Eye Hospital, NHS Foundation Trust, London, United Kingdom
- 4Institute of Ophthalmology, Faculty of Brain Sciences, University College London, London, England, United Kingdom
- 5The University of Auckland, Auckland, Auckland, New Zealand
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Preferential degeneration of retinal ganglion cells (RGCs) is a defining feature of the inherited optic neuropathies (IONs), a group of monogenic eye diseases predominately comprising Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). Their pathogenesis is characterized by mitochondrial dysfunction, which causes loss of RGCs leading to irreversible vision loss. Although currently incurable, there are several emerging therapeutic avenues encompassing gene therapies, precision medicine strategies and neuroprotection. These are underscored by recent technological advances such as next-generation sequencing and improved disease modelling. In this review, we discuss these advances and the impact these will have on future diagnostic and treatment capabilities. We first focus on the clinical presentation and pathogenic mechanisms of LHON and DOA, followed by a discussion of emerging technology to facilitate diagnosis and treatment. We highlight the current unmet clinical demand of IONs, and the promise of current and future research developments.
Keywords: Optic Atrophy, hereditary, leber, autosomal dominant, Retinal Ganglion Cells
Received: 09 Apr 2025; Accepted: 13 Jun 2025.
Copyright: © 2025 Britton, Yu Wai Man and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: John O T Britton, University of Cambridge, Cambridge, United Kingdom
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