Leber hereditary optic neuropathy
Findings
No curated finding names Leber hereditary optic neuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
Definition from the Mondo Disease Ontology (MONDO:0010788), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Mitochondrial respiratory chain defectsHPOHP:0200125
- Very frequent (80% to 99% of cases)
- Slow decrease in visual acuityHPOHP:0007924
- Very frequent (80% to 99% of cases)
- Blurred visionHPOHP:0000622
- Frequent (30% to 79% of cases)
- Central scotomaHPOHP:0000603
- Frequent (30% to 79% of cases)
- Centrocecal scotomaHPOHP:0000576
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Progressive visual lossHPOHP:0000529
- Frequent (30% to 79% of cases)
- Retinal telangiectasiaHPOHP:0007763
- Frequent (30% to 79% of cases)
- Retinal vascular tortuosityHPOHP:0012841
- Frequent (30% to 79% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Occasional (5% to 29% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Occasional (5% to 29% of cases)
- ArrhythmiaHPOHP:0011675
- Occasional (5% to 29% of cases)
Show the remaining 8
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Color vision defectHPOHP:0000551
- Occasional (5% to 29% of cases)
- MyopathyHPOHP:0003198
- Occasional (5% to 29% of cases)
- Peripheral neuropathyHPOHP:0009830
- Occasional (5% to 29% of cases)
- Postural tremorHPOHP:0002174
- Occasional (5% to 29% of cases)
- Reduced contrast sensitivityHPOHP:0032036
- Occasional (5% to 29% of cases)
Genes
12 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:7459HGNC:7459
- Definitive · G2P · Mitochondrial · 2017
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ND1HGNC:7455
- Definitive · G2P · Mitochondrial · 2017
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ND5HGNC:7461
- Strong · G2P · Mitochondrial · 2018
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ND6HGNC:7462
- Strong · G2P · Mitochondrial · 2018
- Supportive · Orphanet · Mitochondrial · 2021
Where it sits
Other names
3 names
Resolves to: Leber hereditary optic neuropathy
- Also called
- Leber Hereditary optic atrophyLeber optic atrophyLHON