Disease Directory Leber Hereditary Optic Neuropathy
Mitochondrial

Leber Hereditary Optic Neuropathy

Also known as: LHON, Leber optic atrophy, mitochondrial optic neuropathy

Prevalence

Approximately 1 in 25,000–50,000

Onset

Young adult (typically 15–35 years); predominantly male

Type

Rare mitochondrial optic neuropathy

Gene

MT-ND4, MT-ND1, MT-ND6 (mtDNA)

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

Acute or subacute painless loss of central vision Centrocaecal scotoma Dyschromatopsia (impaired colour vision) Peripapillary telangiectatic microangiopathy (acute phase) Sequential or simultaneous bilateral involvement Optic atrophy on fundoscopy Rarely, cardiac conduction defects or neurological features (LHON-plus)

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

Patient Organization

LHON Society

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Natural History Registry

LHON Patient Registry

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Orphanet

European reference resource for rare diseases (ORPHA:104)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Leber Hereditary Optic Neuropathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Leber Hereditary Optic Neuropathy. Updated daily.

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