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Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. [3] Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often ...
Dominant optic atrophy is an autosomal dominant disease caused by a defect in the nuclear gene OPA1. A slowly progressive optic neuropathy, dominant optic atrophy, usually presents in the first decade of life and is bilaterally symmetrical.
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.
Paul Kjer is a Danish ophthalmologist who studied a condition in nineteen families that was characterized by infantile optic atrophy along with a dominant inheritance mode. In 1959, the condition was named Kjer's optic neuropathy in his honor. [1]
Sadun was the first to identify an optic neuropathy associated with ... Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy. ...
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]
The three of them suffered from hearing loss ranging from moderate to severe and optic neuropathy but they did not have any other symptoms, including the ones usually associated with both Wolfram syndrome and Wolfram-like syndrome (such as diabetes mellitus/insipidus or depression), but they had red-green colour blindness.
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