What's Leber hereditary optic neuropathy?
Leber hereditary optic neuropathy is a rare inherited condition that damages the optic nerve and causes painless, progressive loss of central vision, most often in young adults.
| Also indexed as | ORPHA:104, MONDO:0010788 |
|---|---|
| Features mapped | 14 |
| Treatments mapped | 3 |
| Published sources | 14 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Reduced contrast sensitivity
Color vision is affected early in leber hereditary optic neuropathy, with difficulty telling certain colors apart (dyschromatopsia). This color confusion can appear even in young carriers and within the first year of symptoms.
Centrocecal scotoma
A blind spot in the center of vision (central scotoma) is a typical early feature of Leber hereditary optic neuropathy, reflecting damage to the optic nerve fibers serving central sight.
Slow decrease in visual acuity
Vision becomes blurred and acuity declines, usually painlessly and over weeks, as Leber hereditary optic neuropathy affects one eye and then commonly the other.
Central scotoma
A central scotoma, a blind spot in the middle of the field of view, is a typical way the condition first appears.
Color vision defect
Along with losing central vision, people with LHON typically lose the ability to tell colors apart (called dyschromatopsia), often in a red-green pattern. This can show up even in carriers before vision loss begins.
Abnormal electroretinogram
Vision in leber hereditary optic neuropathy can drop to counting fingers or worse, with a dense blind spot in the center of vision or running from the center toward the eye's natural blind spot (a central or centrocecal scotoma).
Optic atrophy
Over time the optic nerve (the cable carrying vision from the eye to the brain) wastes and pales. In leber hereditary optic neuropathy the nerve cells behind this, the retinal ganglion cells, degenerate, and the resulting vision loss is usually severe and permanent.
Retinal nerve fiber edema
Early in LHON the nerve-fiber layer around the optic disc can look swollen or thickened on imaging (OCT). This apparent swelling is a feature of the acute phase, before the optic nerve later thins.
Abnormality of visual evoked potentials
Tests of the visual pathway (visual evoked potentials) often show delayed signals, reflecting damage to the optic nerve.
Blurred vision
Blurred vision is a common early symptom, sometimes starting in one eye before the other.
Progressive visual loss
Vision is lost gradually and without pain, usually affecting the central vision first.
Retinal vascular tortuosity
When an eye doctor examines the back of the eye in LHON, the small blood vessels around the optic nerve often look abnormally twisting and winding. This is one of the characteristic eye-exam signs of LHON.
Retinal telangiectasia
Another characteristic LHON sign on eye examination is small abnormal blood vessels around the optic disc (peripapillary telangiectasia). Importantly, these vessels do not leak dye on imaging, which helps tell LHON apart from true optic-nerve swelling.
Subacute painless vision loss
The classic way LHON begins is a fairly rapid, painless loss of central vision over days to weeks. One eye is usually affected first, with the other following within weeks to a few months, so vision loss ends up affecting both eyes.
How it is diagnosed
Leber hereditary optic neuropathy
Diagnosed using: mitochondrial DNA genetic testing.
“The diagnosis of LHON is made in a subject with a consistent clinical history and/or one of three common pathogenic mitochondrial DNA (mtDNA) variants identified by molecular genetic testing.”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Idebenone
Idebenone is a medicine used in Leber hereditary optic neuropathy that has been linked to some recovery of vision in treated patients.
Used to help with: Leber hereditary optic neuropathy.
“Treatment with Idebenone (two out of two patients) was associated with visual improvement and favorable outcomes, while patients treated with coenzyme Q10 reported subjective visual improvement that was not detected through visual assessments.”
lenadogene nolparvovec
Lenadogene nolparvovec is a gene therapy given by injection into the eye for people with leber hereditary optic neuropathy who carry the m.11778G>A MT-ND4 change. In an indirect comparison it showed greater visual recovery at 24 months than idebenone in this group.
Used to help with: Leber hereditary optic neuropathy.
“Lenadogene nolparvovec is an intravitreal gene therapy for patients with Leber hereditary optic neuropathy (LHON) carrying the m.11778G>A MT-ND4 variant.”
rAAV2/2-ND4 gene therapy
rAAV2/2-ND4 gene therapy delivers a working copy of the ND4 gene to the eye. A pooled analysis of three randomized trials described it as a moderately effective and safe treatment for leber hereditary optic neuropathy, with side effects that were mostly mild eye inflammation.
Used to help with: Leber hereditary optic neuropathy.
“…rAAV2/2-ND4 is a moderately effective and safe treatment for…”
What changes how it shows up
The diagnosis is not the whole story. The factors and open questions below are described in the research mapped here as shaping whether, or how strongly, the condition shows up, or as points the field has not yet settled. They are not, on their own, its cause or its cure.
incomplete penetrance
Carrying a leber hereditary optic neuropathy mutation does not mean a person will lose vision. Only some carriers go on to be affected, and the chance is higher in males.
Described as modulating: Leber hereditary optic neuropathy.
“…only a subset of the mutation carriers becomes affected, with a higher penetrance in…”
m.11778G>A mutation predominance
Most leber hereditary optic neuropathy is caused by the m.11778G>A change. In a large Japanese series it accounted for the large majority of cases, with m.14484T>C and m.3460G>A making up smaller shares.
Described as modulating: Leber hereditary optic neuropathy.
“Mutation frequencies were m.11778 G > A, 88.8%; m.14484 T > C, 9.5%; and m.3460 G > A, 1.7%.”
male sex
Leber hereditary optic neuropathy affects men far more often than women. In one clinical overview men were described as about four times more likely to be affected than women.
Described as modulating: Leber hereditary optic neuropathy.
“Men are 4 times more likely to be affected than women.”
maternal (mitochondrial) inheritance
Leber hereditary optic neuropathy is passed down through the mother's line, because it is carried in mitochondrial DNA. Several point mutations in the mitochondrial genome have been linked to the condition.
Described as modulating: Leber hereditary optic neuropathy.
“Leber Hereditary Optic Neuropathy is a maternally inherited…”
second-eye involvement
Leber hereditary optic neuropathy usually affects both eyes. When only one eye is involved at first, the other is usually affected two to three months later.
Described as modulating: Leber hereditary optic neuropathy.
“In unilateral cases, the other eye is usually affected 2 to 3 months later.”
How to read the evidence labels
Where this comes from
This guide is built from 14 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.