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An example of this type of disorder is Leber's hereditary optic neuropathy.
An eye disease, called Leber's hereditary optic neuropathy, also shows the characteristic mitochondrial pattern of appearing suddenly as a person ages.
He was diagnosed with Leber's hereditary optic neuropathy when he was fifteen years old and lost most of his sight.
Within the field of medical genetics, certain polymorphisms specific to haplogroup J have been associated with Leber's hereditary optic neuropathy.
It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber.
When he was a sophomore, Mr. Esposito suddenly became blind as a result of a rare genetic disease, Leber's hereditary optic neuropathy.
One doctor's diagnosis was Leber's hereditary optic neuropathy, a rare genetic disorder, but tests were inconclusive, Mr. Ptah said.
Optic neuropathy, any condition affecting the optic nerve (including "Leber's hereditary optic neuropathy")
Mr. Esposito learned that he had Leber's hereditary optic neuropathy, a rare genetic disorder that causes blindness that settles in quickly.
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.
Wolff-Parkinson-White syndrome is sometimes associated with Leber's hereditary optic neuropathy (LHON), a form of mitochondrial disease.
Mashima Y, Hiida Y, Oguchi Y. Remission of Leber's hereditary optic neuropathy with idebenone.
Protofection is also a basis for constructing gene therapies for inherited genetic diseases such as Leber's hereditary optic neuropathy in which mitochondrial DNA is mutated.
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.
The clinical picture that they produce is akin to that of the congenital mitochondrial optic neuropathies, e.g., Leber's hereditary optic neuropathy and Kjer's optic neuropathy.
Point mutations in various complex I subunits derived from mitochondrial DNA (mtDNA) can also result in Leber's Hereditary Optic Neuropathy.
Diseases caused by mutation in the mtDNA include Kearns-Sayre syndrome, MELAS syndrome and Leber's hereditary optic neuropathy.
Theodor Leber Discovered Leber's congenital amaurosis, Leber's hereditary optic neuropathy, Leber's miliary aneurysm, and Leber's Stellate Nueroretinitis.
Injury to the optic nerve can be the result of congenital or inheritable problems like Leber's Hereditary Optic Neuropathy, glaucoma, trauma, toxicity, inflammation, ischemia, infection (very rarely), or compression from tumors or aneurysms.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes - abbreviated to MELAS - is one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy.