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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.
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]
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]
Chronic relapsing inflammatory optic neuropathy (CRION) is a form of recurrent optic neuritis that is steroid responsive and dependent. [1] Patients typically present with pain associated with visual loss. [1] CRION is a clinical diagnosis of exclusion, and other demyelinating, autoimmune, and systemic causes should be ruled out. [3]
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]
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. [4]
It is approved by the European Medicines Agency (EMA) for use in Leber's hereditary optic neuropathy (LHON) and was designated an orphan drug in 2007. [5] Chemically, idebenone is an organic compound of the quinone family. It is also promoted commercially as a synthetic analog of coenzyme Q 10 (CoQ 10).