Leber's disease

Leber's Hereditary Optic Neuropathy (LHON), also known as Leber's Disease, is a rare inherited genetic disorder that primarily affects the eye and leads to acute or subacute loss of central vision. This disease usually begins in young adulthood and is more common in males.

Etiology

Leber's Disease is caused by mutations in the mitochondrial DNA. The most common mutations associated with LHON are m.3460G>A, m.11778G>A, and m.14484T>C, which occur in the MT-ND1, MT-ND4, and MT-ND6 genes respectively. These genes encode components of the enzyme complex I, a group of proteins that play a crucial role in the mitochondria's ability to produce ATP, the cell's main source of energy.

Symptoms

The primary symptom of Leber's Disease is painless subacute bilateral visual loss, which is often precipitated by physical or psychological stress. Other symptoms may include dyschromatopsia (impaired color vision), scotoma (blind spot in the visual field), and telangiectasia (small dilated blood vessels near the surface of the skin or mucous membranes).

Diagnosis

Diagnosis of Leber's Disease is based on clinical findings, family history, and genetic testing. Optical coherence tomography (OCT) and fluorescein angiography can be used to detect swelling and leakage in the optic nerve, which are characteristic of LHON.

Treatment

There is currently no cure for Leber's Disease. Treatment is primarily supportive and focuses on managing symptoms and preventing further vision loss. Some studies suggest that idebenone, a synthetic analogue of coenzyme Q10, may improve vision in some patients with LHON.

Prognosis

The prognosis for individuals with Leber's Disease varies. Some patients may experience spontaneous visual improvement, while others may have permanent severe visual loss.

See Also

• Optic neuropathy
• Mitochondrial disease
• Genetic disorder

References

• National Institute of Neurological Disorders and Stroke
• National Organization for Rare Disorders