Neuro-ophthalmology is being reshaped on two fronts at once: imaging and diagnostics that detect optic-nerve disease earlier and more precisely, and new pharmacologic and gene-based therapies for conditions once considered untreatable.
Optical coherence tomography
OCT provides high-resolution, quantitative, repeatable imaging of the optic nerve and retina, enabling non-invasive tracking of axonal and neuronal loss. It has become central to diagnosing and monitoring optic neuritis, multiple-sclerosis-related visual dysfunction, glaucoma, and compressive optic neuropathies, supporting earlier and more precise intervention.
Gene therapy for Leber hereditary optic neuropathy (LHON)
For the ND4 mutation, AAV-based gene therapy (lenadogene nolparvovec) is the most advanced approach, with idebenone remaining available across mutation types. The RESCUE, REVERSE, and REFLECT trials showed durable improvements in visual acuity sustained to five years, including a striking and consistent improvement in the untreated contralateral eye; bilateral injection produced higher responder rates than unilateral.
An important caveat on availability: despite these results, lenadogene nolparvovec is not yet approved in any country — the European marketing application was withdrawn in 2023 (partly because the contralateral-eye effect complicated placebo-controlled endpoints), and it is currently accessible only through expanded-access programs. So while this is a genuine advance and a source of real hope for inherited optic neuropathy, it remains investigational rather than routine practice.
Telemedicine, AI, and biomarkers
Telemedicine combined with AI-powered image analysis (including OCT) now supports remote screening, diagnosis, and monitoring — especially valuable for rural and underserved populations. In parallel, serological biomarkers such as aquaporin-4 and MOG-IgG have sharpened the diagnosis of immune-mediated optic neuritis and related disorders, enabling targeted rather than empiric immunotherapy.
New therapeutic agents
Tocilizumab, an IL-6 receptor antibody, is an effective steroid-sparing option for inflammatory optic neuropathies — including those associated with giant cell arteritis and corticosteroid-refractory cases — improving vision and reducing relapse. Teprotumumab, an IGF-1 receptor antibody approved for thyroid eye disease, robustly reduces proptosis, diplopia, and inflammation, often avoiding the need for surgery or radiation; it can cause hyperglycemia, muscle spasms, and auditory disturbances that warrant monitoring.
| Technology / therapy | Main use | Status |
|---|---|---|
| OCT | Diagnosis/monitoring of optic neuropathies, MS | Standard of care |
| LHON gene therapy | Inherited optic neuropathy (ND4) | Investigational; expanded access only |
| Telemedicine/AI | Remote screening and triage | Expanding |
| Biomarkers (AQP4, MOG-IgG) | Optic neuritis / NMOSD | Established |
| Tocilizumab | Steroid-sparing inflammatory optic neuropathy | In use |
| Teprotumumab | Thyroid eye disease | Approved |
Further reading: LHON gene therapy reviews (Chen, Yu-Wai-Man & Newman 2022; Lam 2024) and REFLECT five-year data (2025); tocilizumab in autoimmune eye disease (Atienza-Mateo et al., 2022); teprotumumab in thyroid eye disease (Kossler et al., 2022).