Ad
related to: leber hereditary optic neuropathy cure
Search results
Results From The WOW.Com Content Network
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]
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.
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).
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]
Leber's hereditary optic neuropathy (LHON) [3] LHON is an eye disorder characterized by progressive loss of central vision due to degeneration of the optic nerves and retina (apparently affecting between 1 in 30,000 and 1 in 50,000 people [5]); visual loss typically begins in young adulthood [2]
He is the author of 5 books, entitled Optics for Ophthalmologists: A Board-Review Manual, Neuroprotection: Implication for Eye Disease, New Methods of Sensory Visual Testing, Ophthalmology, and Atlas of Leber’s Hereditary Optic Neuropathy. His publications have been cited about 25000 times, and his h-index is 80.
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]
Voretigene neparvovec is an approved gene therapy to treat Leber's hereditary optic neuropathy. [94]: 1354 alipogene tiparvovec, a treatment for pancreatitis caused by a genetic condition, and Zolgensma for the treatment of spinal muscular atrophy both use an adeno-associated virus vector. [78]: 2647