Leber's hereditary optic neuropathy

Leber's hereditary optic neuropathy is an inherited mitochondrial disorder that usually causes sudden, painless central vision loss in young adults through degeneration of retinal ganglion cells.

Mitochondrial DNA: Mitochondrial DNA is the small genome inside mitochondria, inherited in humans almost entirely from the mother. Most cases arise from mutations in this genome, which passes through the maternal line.
Central scotoma: A central scotoma is a missing or dim area in the center of the visual field. It reflects the central vision loss typical of LHON.
Idebenone: Idebenone is a synthetic quinone used as a treatment for Leber's hereditary optic neuropathy in some countries. It is used to support mitochondrial electron transfer and may improve visual outcomes for some patients.
Dominant optic atrophy: Dominant optic atrophy is an inherited optic nerve disorder most often caused by variants in the OPA1 gene. It can resemble LHON but usually begins earlier and follows autosomal dominant inheritance.
Complex I: Complex I is a respiratory-chain enzyme that transfers electrons from NADH to ubiquinone and contributes to the proton gradient. The common LHON mutations alter complex I subunits and impair mitochondrial energy production.
Optic neuropathy: Optic neuropathy is damage or dysfunction of the optic nerve from any cause. LHON is a hereditary, mitochondrial cause of optic neuropathy.
Gene therapy: Gene therapy modifies or supplements genetic material to treat or prevent disease. Clinical research has tested gene therapy approaches to address LHON-associated mitochondrial mutations.
Optic neuritis: Optic neuritis is inflammation of the optic nerve that commonly causes subacute visual loss and pain with eye movement. Its painful, inflammatory presentation differs from the typically painless visual loss of LHON.
Retinal ganglion cell: A retinal ganglion cell carries visual signals from the retina toward the brain through its axon. These cells, especially those serving central vision, are selectively vulnerable in LHON.
Maternal inheritance: Maternal inheritance is transmission of genetic material from a mother to her offspring. Mitochondrial DNA mutations underlying LHON are transmitted maternally.

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