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Gene Therapy for Leber Hereditary Optic Neuropathy (LHON): A Systematic Review and Meta-Analysis
Lama Nasser Alghamdi1,2, Ali Saleh Alsudais1,2, Salma Hamdan Almarwani1,2
1College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
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.
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