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Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Although most DNA is packaged in chromosomes within the nucleus, mitochondria have a distinct mitochondrial genome composed of mtDNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause Leber hereditary optic neuropathy. [6]
Leber's hereditary optic neuropathy (LHON) is the most frequently occurring mitochondrial disease, and this inherited form of acute or subacute vision loss predominantly affects young males. LHON usually presents with rapid vision loss in one eye followed by involvement of the second eye (usually within months).
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. [1] [2] Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. [3]
Between 1992 and 1993, in the Cuban Epidemic of Optic Neuropathy, nearly 50,000 people in Cuba were affected with optic neuropathy, sensory and autonomic peripheral neuropathy, neural deafness, and in a few cases, myelopathy. [15] [16] The most common pattern of symptoms consisted of severe weight loss, fatigue and a subacute loss of vision.
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. [2]
LCA was first described by Theodor Leber in the 19th century. [3] [4] It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber. One form of LCA was successfully treated with gene therapy in 2008. [5] [6] [7] [8]
Leber was the first to describe what is now known as Leber's congenital amaurosis in 1869 and Leber's hereditary optic neuropathy in 1871. [ 2 ] [ 3 ] [ 4 ] An anatomical structure called "Leber's plexus" is named after him, which is a small venous plexus in the eye located between Schlemm's canal (named after German anatomist Friedrich Schlemm ...
One and a half syndrome; Other names: On-and-a-half syndrome: Diagram of normal eye movement compared to left one-and-a-half syndrome (i.e. left lateral gaze palsy, with left Internuclear ophthalmoplegia (inability to adduct))