About Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy is a maternally inherited mitochondrial disease causing acute or subacute painless loss of central vision due to selective degeneration of retinal ganglion cells and the optic nerve. The three primary mutations (m.11778G>A in MT-ND4, m.3460G>A in MT-ND1, and m.14484T>C in MT-ND6) account for over 90% of cases. Males carrying the mutation are more likely to be affected, with partial spontaneous visual recovery possible in some individuals, particularly those harbouring the m.14484T>C variant.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Leber Hereditary Optic Neuropathy trials.
Timing from visual loss onset is critical: most neuroprotective trials require enrolment within 6–12 months of symptom onset in the affected eye; do not delay application.
Primary mutation status (m.11778G>A, m.3460G>A, or m.14484T>C) is required for enrolment; mutation-specific trials exist, so confirm your exact variant.
Visual acuity in both eyes at screening is a key stratification and eligibility variable; obtain formal low-vision assessment at a specialist centre.
Patient Resources
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