For patients and families

Leber hereditary optic neuropathy (LHON)

LHON is caused by changes in mitochondrial DNA, which is passed down from the mother.¹ It most often affects young men, but women and older adults can also be affected, and many people who carry the gene change never lose vision.¹

• Vision loss is usually painless and in the center of vision, first in one eye, with the second eye often following within weeks to months.¹
• Genetic testing confirms the diagnosis. Three common changes account for most cases.¹
• Carriers are generally advised not to smoke and to limit alcohol, which have been associated with a higher chance of vision loss.¹
• In Europe, a medicine called idebenone is authorized for LHON in adolescents and adults.² It is not FDA-approved in the United States. Gene therapies are being studied.

Dominant optic atrophy (DOA)

DOA is usually caused by changes in the OPA1 gene and can be passed from either parent.³ It typically starts in childhood with slow, symmetric loss of vision in both eyes, often with trouble seeing blue-yellow colors.³ Many people keep useful vision for life.

Support

Low vision services, genetic counseling for families, and connection with patient organizations can help. Ask us about a referral.

For clinicians

• LHON: subacute painless central or cecocentral loss, sequential involvement; acute discs may show telangiectatic microangiopathy and pseudo-edema without leakage on fluorescein angiography, later temporal pallor.¹ Primary mtDNA variants m.11778G>A, m.3460G>A, and m.14484T>C account for most cases.¹ Consider LHON in “atypical optic neuritis” that is painless and poorly recovering, and in unexplained bilateral central loss.
• DOA: OPA1 (and less often OPA3 and other genes); insidious bilateral loss from childhood, temporal or diffuse pallor, central or cecocentral scotomas, tritan dyschromatopsia; “DOA plus” phenotypes include hearing loss and neuromuscular features.³
• Work-up: genetic testing, OCT RNFL/GCL, perimetry; exclude compressive, toxic, and nutritional causes (see toxic and nutritional optic neuropathy).
• Treatment: idebenone has an EU authorization for LHON;² gene therapy trials are ongoing. Counsel on tobacco and alcohol avoidance in LHON carriers.¹ Refer for genetic counseling and low-vision rehabilitation.

References

1. Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. In: Adam MP, et al., eds. GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1174/
2. European Medicines Agency. Raxone (idebenone): EPAR. https://www.ema.europa.eu/en/medicines/human/EPAR/raxone
3. Lenaers G, et al. Dominant optic atrophy. Orphanet J Rare Dis. 2012;7:46. https://pubmed.ncbi.nlm.nih.gov/22776096/

How to reach us

Hazleton Eye Specialists: phone 570-453-2020, fax 570-453-1020. Addresses for all five offices (Hazleton, Stroudsburg, Nanticoke, Pottsville, and Bangor) are on Find an Eye Doctor.

Sudden vision loss needs same-day care. Call an eye doctor right away. If you also have a new headache, jaw pain when chewing, scalp tenderness, fever, or you are over 50 and feel unwell, go to the emergency department.

Medical disclaimer. This page is for general education. The patient section is not medical advice, and the clinician section is not a clinical practice guideline; neither replaces an examination, clinical judgment, or specialty consultation. If you have sudden vision loss, seek same-day care from an eye doctor or an emergency department. Information is current as of the “last reviewed” date.