Leber's hereditary optic neuropathy

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Leber's Hereditary Optic Neuropathy (LHON or Leber's disease) is a rare inherited genetic disorder that primarily affects the eye and leads to vision loss. Pronounced as Leber's hereditary optic neuropathy.

Etymology

The condition is named after Theodor Leber, a German ophthalmologist who first described the disease in the 19th century.

Definition

Leber's Hereditary Optic Neuropathy is a condition related to changes in mitochondria, the energy-producing centers of cells. It is characterized by vision loss, particularly in young men. The vision loss is typically severe, with onset in both eyes simultaneously or sequentially.

Symptoms

The primary symptom of LHON is painless, sudden, subacute loss of central vision. This can affect one eye initially but most commonly affects both eyes within a matter of weeks or months. Other symptoms may include dyschromatopsia (impaired color vision), and in rare cases, cardiac arrhythmia or neurological abnormalities such as tremors.

Causes

LHON is caused by mutations in the mitochondrial DNA. Most cases are due to one of three primary mitochondrial DNA mutations. These mutations lead to impaired energy production, a critical factor in the survival of cells, particularly in the optic nerve.

Diagnosis

Diagnosis of LHON is typically based on the clinical presentation of the patient, family history, and genetic testing. Optical coherence tomography and fundoscopy are also used to examine the optic nerve and retina.

Treatment

There is currently no cure for LHON. Treatment is supportive and aims to slow the progression of the disease. This may include idebenone, a synthetic antioxidant, and other supportive measures such as low vision aids and counseling.

See also

External links

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