DISEASE SCANNER
Global Incurable Diseases Tracker
Leber Hereditary Optic Neuropathy (LHON)
A mitochondrial disorder causing sudden, painless vision loss in young adults, typically males. Caused by mutations in mitochondrial DNA (MT-ND1, MT-ND4, MT-ND6, MT-ND4L). Usually affects one eye first, then the other within weeks to months.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Acute sequential vision loss over weeks to months, then chronic stable blindness. Spontaneous recovery occurs in 10-20% of cases, more commonly in females. Vision typically stabilizes at 20/200 or worse in affected eyes. Idebenone may accelerate recovery in some patients. Avoiding smoking and alcohol (mitochondrial toxins) is important. Genetic counseling essential as maternal inheritance pattern. Risk to offspring of carrier mother is 50%.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Idebenone (antioxidant) may help if started early. Gene therapy (GS010) in clinical trials. Vision rehabilitation. Avoidance of triggers (smoking, alcohol). Spontaneous recovery in some (especially m.3460G>A).
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.