LEBER'S DISEASE Meaning and Definition
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Leber's disease, also known as Leber hereditary optic neuropathy (LHON), is a rare genetic disorder that primarily affects the optic nerve, leading to progressive vision loss. It is named after German ophthalmologist Theodor Karl Gustav von Leber, who first described the condition in 1871.
Leber's disease is inherited maternally through the mitochondrial DNA, which is passed from the mother to her offspring. Most commonly, LHON affects young adult males, usually in their 20s or 30s, but it can also occur in females and children. The exact prevalence of Leber's disease is uncertain, but it is believed to affect approximately 1 in 30,000 to 1 in 50,000 individuals worldwide.
The characteristic symptom of Leber's disease is a painless and sudden loss of central vision in one eye, followed by the other eye within weeks or months. The peripheral vision usually remains intact. The severity and age of onset can vary among individuals, with the degree of visual impairment ranging from mild to severe.
The underlying cause of Leber's disease is mitochondrial dysfunction, particularly affecting the retinal ganglion cells in the optic nerve. This impairment disrupts the normal energy production process within the affected cells, leading to their degeneration and the subsequent vision loss. Genetic mutations in the mitochondrial genes MT-ND1, MT-ND4, and MT-ND6 have been identified as major contributors to the development of Leber's disease.
Current treatment options for Leber's disease are limited and mainly aimed at providing support and managing the associated symptoms. Some studies have explored the potential benefits of certain antioxidants and vitamin supplements, but their effectiveness is still under investigation. Genetic counseling plays an important role in the management of Le
Common Misspellings for LEBER'S DISEASE
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Etymology of LEBER'S DISEASE
The term "Leber's disease" refers to a hereditary optic neuropathy, also known as Leber's hereditary optic neuropathy (LHON). It is named after the German ophthalmologist, Theodor Leber, who first described the condition in 1871.
The word "Leber" is derived from the German language, in honor of the physician Theodor Leber. Although the specific origin or meaning of the surname "Leber" is not clear, it is likely to have originated as a topographic name related to the liver. In German, "Leber" means "liver". However, it is important to note that the term "Leber's disease" primarily refers to the ocular disorder and not a liver-related condition.
