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Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects adult males, and onset is more likely in younger adults.
Ageing, hereditary [2] Diagnostic method: Eye exam: Differential diagnosis: Amblyopia, retrobulbar optic neuropathy, retinitis pigmentosa sine pigmento [4] Treatment: Eyeglasses, contact lenses, refractive surgeries, IOL implantation [2] Frequency ~7.5% (US) [5]
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]
Corticosteroid responsive optic neuritis not associated with demyelinating disease should also be ruled out, including sarcoidosis, systemic lupus erythematosus, or other systemic autoimmune disease. [11] Hereditary causes such as Leber's hereditary optic neuropathy are also part of the differential diagnosis. [12]
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).
Individuals from haplogroups UK, J1c and J2 were found to be more susceptible to Leber's hereditary optic neuropathy because they have reduced oxidative phosphorylation capacity, which results in part from lower mtDNA levels. [19] J mtDNA has also been associated with HIV infected individuals displaying accelerated progression to AIDS and death ...
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]