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Leber Hereditary Optic Neuropathy (LHON)
LHON is a mitochondrial disorder caused by genetic mutations that impair energy production in retinal ganglion cells, leading to rapid, severe vision loss
Prevalence
2-7/100,000
6,620-23,170
US Estimated
10,270-35,945
Europe Estimated
Age of Onset
LHON most commonly affects individuals between the ages of 15 and 35, with men being 3-5 times more likely to develop the disease
ICD-10
H47.22
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
A mitochondrial disorder caused by genetic mutations that impair energy production in retinal ganglion cells, leading to rapid, severe vision loss
5 Facts you should know
FACT
LHON is a rare genetic disorder characterized by the degeneration of the optic nerve, leading to vision loss
FACT
LHON typically presents in young adults, predominantly affecting males, with acute, painless vision impairment that often starts in one eye and may later involve the other eye
FACT
The majority of LHON cases are associated with mitochondrial DNA mutations, particularly in genes MT-ND1, MT-ND4, and MT-ND6
FACT
Diagnosis involves clinical evaluation, visual field testing, and genetic testing to identify mitochondrial DNA mutations
FACT
While there is no cure for LHON, some individuals may benefit from supportive measures, and research into potential treatments, including gene therapies, is ongoing
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Common signs & symptoms
Visual symptoms
Painless, subacute central vision loss,
typically beginning in one eye and involving the fellow eye within weeks to months
Dyschromatopsia—
especially loss of red-green color discrimination
Decreased visual acuity,
progressing to severe central scotomas
Loss of contrast sensitivity
and visual field defects confined to the central field
Visual loss is often permanent,
though partial recovery occurs in a minority of cases
Fundoscopic findings
Peripapillary telangiectatic microangiopathy
without fluorescein leakage
Pseudopapilledema
or mild elevation of the optic disc with indistinct margins
Tortuosity
of the central retinal vessels
Temporal optic disc pallor develops
as the disease progresses to the atrophic phase.
Course and later findings
Typically affects young adult males
(15–35 years)
Both eyes eventually develop optic atrophy,
leading to dense central scotomas and visual acuity reduction to counting fingers or worse
The retinal nerve fiber layer (RNFL)
shows early swelling, followed by thinning on OCT
Visual evoked potentials (VEPs)
show reduced amplitudes, and OCT-A may reveal reduced peripapillary capillary density
Current treatments
Supportive and vision rehabilitation
- Low-vision rehabilitation and use of adaptive technologies to maximize independence
- Environmental adjustments (lighting, contrast) and training in assistive devices for reading and mobility.
Genetic counseling and family risk assessment
- Educate on maternal inheritance and offer genetic testing to at-risk relatives.
- Discuss reproductive options, including mitochondrial replacement therapy (MRT) where available.
Lifestyle and risk factor management
- Avoid smoking, excessive alcohol, and mitochondrial-toxic medications.
- Support general mitochondrial health through balanced nutrition and metabolic control.
Medical monitoring
- Cardiac screening for conduction abnormalities (e.g., WPW pattern).
- Neurologic evaluation for “LHON-plus” syndromes (ataxia, dystonia, MS-like presentations).
Note on Emerging Therapies
While no pharmacologic or gene-based therapy has FDA approval in the U.S., multiple investigational approaches—including gene therapy and mitochondrial protective agents—are under active study and may redefine management in the coming years.
References:
Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Leber's hereditary optic neuropathy: Clinical features, molecular genetics, and therapeutic management. Brain. 2017;140(6):e35. doi:10.1093/brain/awx093. Newman NJ, Biousse V, Newman SA. Hereditary optic neuropathies: From the mitochondria to the optic nerve. Am J Ophthalmol. 2016;176:1–9. doi:10.1016/j.ajo.2016.02.013. Yu-Wai-Man P, Newman NJ, Carelli V, et al. The evolving treatment landscape in Leber hereditary optic neuropathy. Brain. 2023;146(7):2574–2588. doi:10.1093/brain/awad115. Leber Hereditary Optic Neuropathy (LHON) Clinical Management Guidelines. United Mitochondrial Disease Foundation (UMDF). Accessed October 2025. https://umdf.org/lhon. National Eye Institute. Leber Hereditary Optic Neuropathy. Updated 2024. Accessed October 2025. https://www.nei.nih.gov