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Updated: Aug 11, 2026
12:23
Dynamic Visual Tests to Identify and Quantify Visual Damage and Repair Following Demyelination in Optic Neuritis Patients
Published on: April 14, 2014
[Past, present, and future in Leber's hereditary optic neuropathy]
1Department of Ophthalmology, Keio University, School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-9882, Japan.
Nippon Ganka Gakkai Zasshi
|January 23, 2002
Summary
Leber's disease, a mitochondrial DNA (mtDNA) disorder, shows varying visual prognosis based on mutation type. Early treatment may aid visual recovery in some patients, with gene therapy offering future possibilities.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Context:
- Leber's hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy.
- Mitochondrial DNA (mtDNA) mutations are the primary cause of LHON.
- Understanding the genetic basis and clinical manifestations is crucial for diagnosis and management.
Purpose:
- To review clinical studies on Leber's disease from 1990-1998.
- To analyze genetic mutations, visual evoked potentials (VEP), optic nerve imaging, and therapeutic options.
- To explore the potential for gene therapy in treating LHON.
Summary:
- Genetic analysis identified 3460, 11778, and 14484 mutations as primary causes of LHON, with varying visual prognoses.
- VEP and MRI findings suggest optic nerve demyelination and potential intraocular lesions.
- Early treatment with idebenone and vitamins may accelerate visual recovery, particularly in younger patients.
Impact:
- This review highlights the correlation between specific mtDNA mutations and visual outcomes in LHON.
- It underscores the importance of early diagnosis and potential therapeutic interventions.
- It provides insights into the pathophysiology and future gene therapy strategies for LHON.
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