Leber's disease
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Leber's Hereditary Optic Neuropathy (LHON) is a rare genetic disorder that leads to vision loss and blindness. It is caused by mutations in the mitochondrial DNA, which are inherited maternally. The condition primarily affects young adults, with males being more frequently affected than females.
Symptoms[edit | edit source]
The primary symptom of LHON is a painless, subacute loss of central vision in one eye, followed by the other eye within weeks to months. This vision loss is due to the degeneration of the retinal ganglion cells and their axons, leading to optic nerve atrophy.
Causes[edit | edit source]
LHON is caused by mutations in the mitochondrial DNA. The most common mutations associated with the disease are found in the MT-ND1, MT-ND4, and MT-ND6 genes. These mutations affect the electron transport chain, impairing cellular energy production.
Risk Factors[edit | edit source]
Certain environmental factors, such as smoking and alcohol consumption, may increase the risk of developing symptoms in individuals with the genetic mutations. These factors are thought to exacerbate the mitochondrial dysfunction.
Diagnosis[edit | edit source]
Diagnosis of LHON is based on clinical findings and confirmed by genetic testing to identify the specific mitochondrial DNA mutations. An ophthalmic examination may reveal characteristic changes in the optic nerve.
Treatment[edit | edit source]
There is currently no cure for LHON. Treatment focuses on supportive care and the use of visual aids to help manage vision loss. Some studies suggest that idebenone, a synthetic analog of coenzyme Q10, may have some benefit in improving visual outcomes.
Prognosis[edit | edit source]
The prognosis for individuals with LHON varies. Some may experience partial recovery of vision, while others may have permanent and severe vision loss. Early diagnosis and management of risk factors may improve outcomes.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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