Neuroophthalmology. 2026 Feb 17;50(3):215-221. doi: 10.1080/01658107.2026.2624440. eCollection 2026.
ABSTRACT
BACKGROUND: LHON is a rare mitochondrial disease causing bilateral vision loss, most commonly due to the m.11778G>A mutation. rAAV2/2-ND4 gene therapy is a potential disease-modifying treatment.
METHODS: Systematic review and meta-analysis of three RCTs (RESCUE, REVERSE, REFLECT) including 175 patients.
RESULTS: Gene therapy significantly improved best-corrected visual acuity but did not significantly increase responder rates. Adverse events were mostly mild ocular inflammation, with no treatment-related mortality.
CONCLUSIONS: rAAV2/2-ND4 is a moderately effective and safe treatment for LHON, though long-term outcomes and predictors of response remain unclear.
PMID:42131170 | PMC:PMC13166178 | DOI:10.1080/01658107.2026.2624440