Technological advances in the diagnosis and management of inherited optic neuropathies
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 character...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
|
| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2025.1609033/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1839617143551819776 |
|---|---|
| author | John O. T. Britton John O. T. Britton Patrick Yu-Wai-Man Patrick Yu-Wai-Man Patrick Yu-Wai-Man Patrick Yu-Wai-Man Benson S. Chen Benson S. Chen Benson S. Chen |
| author_facet | John O. T. Britton John O. T. Britton Patrick Yu-Wai-Man Patrick Yu-Wai-Man Patrick Yu-Wai-Man Patrick Yu-Wai-Man Benson S. Chen Benson S. Chen Benson S. Chen |
| author_sort | John O. T. Britton |
| collection | DOAJ |
| description | 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 characterised 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. |
| format | Article |
| id | doaj-art-e6ed05cc7c6c4e88a8cc57d7935e0499 |
| institution | Matheson Library |
| issn | 1664-2295 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj-art-e6ed05cc7c6c4e88a8cc57d7935e04992025-07-25T05:25:20ZengFrontiers Media S.A.Frontiers in Neurology1664-22952025-07-011610.3389/fneur.2025.16090331609033Technological advances in the diagnosis and management of inherited optic neuropathiesJohn O. T. Britton0John O. T. Britton1Patrick Yu-Wai-Man2Patrick Yu-Wai-Man3Patrick Yu-Wai-Man4Patrick Yu-Wai-Man5Benson S. Chen6Benson S. Chen7Benson S. Chen8John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United KingdomCambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge, United KingdomJohn van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United KingdomCambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge, United KingdomMoorfields Eye Hospital NHS Foundation Trust, London, United KingdomInstitute of Ophthalmology, University College London, London, United KingdomJohn van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United KingdomCambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge, United KingdomDepartment of Medicine, University of Auckland, Auckland, New ZealandPreferential 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 characterised 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.https://www.frontiersin.org/articles/10.3389/fneur.2025.1609033/fulloptic atrophyhereditaryleberautosomal dominantretinal ganglion cells |
| spellingShingle | John O. T. Britton John O. T. Britton Patrick Yu-Wai-Man Patrick Yu-Wai-Man Patrick Yu-Wai-Man Patrick Yu-Wai-Man Benson S. Chen Benson S. Chen Benson S. Chen Technological advances in the diagnosis and management of inherited optic neuropathies Frontiers in Neurology optic atrophy hereditary leber autosomal dominant retinal ganglion cells |
| title | Technological advances in the diagnosis and management of inherited optic neuropathies |
| title_full | Technological advances in the diagnosis and management of inherited optic neuropathies |
| title_fullStr | Technological advances in the diagnosis and management of inherited optic neuropathies |
| title_full_unstemmed | Technological advances in the diagnosis and management of inherited optic neuropathies |
| title_short | Technological advances in the diagnosis and management of inherited optic neuropathies |
| title_sort | technological advances in the diagnosis and management of inherited optic neuropathies |
| topic | optic atrophy hereditary leber autosomal dominant retinal ganglion cells |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2025.1609033/full |
| work_keys_str_mv | AT johnotbritton technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT johnotbritton technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT patrickyuwaiman technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT patrickyuwaiman technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT patrickyuwaiman technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT patrickyuwaiman technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT bensonschen technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT bensonschen technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies AT bensonschen technologicaladvancesinthediagnosisandmanagementofinheritedopticneuropathies |