Short answer · Medically reviewed summary · Last updated: 2026-05-08
Leber Hereditary Optic Neuropathy (LHON) is a rare genetic condition characterized by the sudden, painless, and progressive loss of central vision, typically beginning in one eye followed by the other. Symptoms arise due to the degeneration of retinal ganglion cells, which disrupts the transmission of visual information from the eye to the brain. What are the primary symptoms of Leber Hereditary Optic Neuropathy? The hallmark of Leber Hereditary Optic Neuropathy is a rapid, painless blurring and clouding of vision.
1 people with Leber Hereditary Optic Neuropathy have shared their first-person experience on this question at DiseaseMaps.
Which are the symptoms of Leber Hereditary Optic Neuropathy?
Symptoms of Leber Hereditary Optic Neuropathy reported by real patients, from the most common to the most limiting, plus a medically reviewed summary with sources.
Leber Hereditary Optic Neuropathy (LHON) is a rare genetic condition characterized by the sudden, painless, and progressive loss of central vision, typically beginning in one eye followed by the other. Symptoms arise due to the degeneration of retinal ganglion cells, which disrupts the transmission of visual information from the eye to the brain.
What are the primary symptoms of Leber Hereditary Optic Neuropathy?
The hallmark of Leber Hereditary Optic Neuropathy is a rapid, painless blurring and clouding of vision. Patients often notice a "blind spot" (scotoma) that expands over time, significantly impacting central vision while peripheral vision often remains intact. In our community of 57 Leber Hereditary Optic Neuropathy members, many report that the initial loss of visual acuity can occur over weeks or months, often leading to difficulty with fine tasks like reading, recognizing faces, or driving.
How does the progression of Leber Hereditary Optic Neuropathy occur?
The progression of Leber Hereditary Optic Neuropathy generally follows a predictable pattern:
- Acute Phase: Sudden onset of visual blurring in one eye, followed by the other eye within weeks or months.
- Atrophic Phase: A period where visual acuity stabilizes at a significantly reduced level, often resulting in legal blindness.
- Variable Recovery: While permanent vision loss is common, some individuals experience partial, spontaneous improvement in visual acuity over years.
What early warning signs should families monitor?
Early symptoms of Leber Hereditary Optic Neuropathy may be subtle. Watch for frequent tripping, difficulty reading small print, or complaints of "dimness" in lighting. Because Leber Hereditary Optic Neuropathy is mitochondrial, symptoms often emerge during late adolescence or early adulthood, though onset can occur at any age.
When should you seek medical attention?
If you experience any sudden change in visual clarity, consult an ophthalmologist or neuro-ophthalmologist immediately. While there is no cure, early diagnosis is essential for monitoring ocular health and discussing potential therapeutic interventions or clinical trials.
Next steps
- Consult a neuro-ophthalmologist to confirm a diagnosis through genetic testing.
- Connect with the 57 members on DiseaseMaps.org to share experiences and coping strategies.
- Avoid environmental triggers such as smoking and excessive alcohol consumption, which may worsen mitochondrial stress.
- Schedule regular comprehensive eye exams to monitor for secondary complications.
Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Leber Hereditary Optic Neuropathy
- Orphanet: Leber Hereditary Optic Neuropathy (ORPHA:52)
- OMIM (Online Mendelian Inheritance in Man): Mitochondrial DNA-associated LHON (#535000)
- International LHON Awareness Group resources
Worsening of vision, blurred vision, or clouding of central vision that impairs vision of detail in the two eyes.
Decreased central vision needed to read, recognize faces, or drive.
Scotoma central, which refers to a deficit of a part of the visual field and may manifest as a dark spot in the visual field (in this case it is called a scotoma positive), or treated in a lagoon in the visual field (in this area the patient does not see anything) that appears at the point of fixation central.
Low visual acuity (in 80% of people) that gets worse in such a way that you can not even count the fingers.
Atrophy bilateral optic which causes vision to dim and reduces the field of vision. The ability to see fine detail is also lost. The colors seem faded.
With time, the pupil will be less able to react to the light.
Legal blindness in the majority of cases, that is deep and permanent, except in a few cases in which there is an improvement of central vision.
In some more rare cases there can be neurological symptoms associated:[3][4]
Postural tremor.
Peripheral neuropathy.
Myopathy, diseases that cause problems with the tone and contraction of muscles that control voluntary movements.
Movement disorders.
Symptoms similar to multiple sclerosis progressive.
Ataxia, which is loss of coordination of movements.
Twisting and repetitive movements of the muscles.
Encephalopathy, in which there is an altered mental state that is sometimes accompanied by poor coordination of movements of legs or arms.
Cardiac conduction defects.
It is important to know that some people despite having a mutation that causes Leber hereditary optic neuropathy do not develop any feature of this disease. In particular, more than 50% of males with a mutation and more than 85% of women with a mutation will never have vision loss or related medical problems. For this reason, it is believed that there are other factors that can determine whether a person will develop the signs and symptoms.[3]
Last update: 3/13/2017
Source: https://rarediseases.info.nih.gov/espanol/13049/neuropatia-optica-hereditaria-de-leber#diseaseSíntomasSection
Posted May 20, 2017 by Enrique Guzmán 1370
