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  2. Leber's hereditary optic neuropathy - Wikipedia

    en.wikipedia.org/wiki/Leber's_hereditary_optic...

    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]

  3. Optic neuropathy - Wikipedia

    en.wikipedia.org/wiki/Optic_neuropathy

    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).

  4. Idebenone - Wikipedia

    en.wikipedia.org/wiki/Idebenone

    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).

  5. MELAS syndrome - Wikipedia

    en.wikipedia.org/wiki/MELAS_syndrome

    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]

  6. Optic neuritis - Wikipedia

    en.wikipedia.org/wiki/Optic_neuritis

    Leber's hereditary optic neuropathy; Blood clot (Rank 29) (Optic ONLY) 17,000: 16,777: 5%: Reversible if early and before reduced blood flow causes permanent damage. Nerve pinch (0) NOT REPORTED-4%: Usually heals itself, treatment not needed. Injury to optic nerve (including poisoning, i.e. methanol) (0) 23,827: 20,121 <1%: Depends on severity ...

  7. Homoplasmy - Wikipedia

    en.wikipedia.org/wiki/Homoplasmy

    Leber's hereditary optic neuropathy (LHON) is the disease in humans that is most frequently associated with homoplasmy. [7] This condition is characterized by the atrophy of retinal ganglion cells, which leads to central blindness and eventually total blindness. [11]

  8. Cytochrome c oxidase subunit I - Wikipedia

    en.wikipedia.org/wiki/Cytochrome_c_oxidase_subunit_I

    In humans, mutations in MT-CO1 have been associated with Leber's hereditary optic neuropathy (LHON), acquired idiopathic sideroblastic anemia, Complex IV deficiency, colorectal cancer, sensorineural deafness, and recurrent myoglobinuria. [8] [9] [10]

  9. Kjer's optic neuropathy - Wikipedia

    en.wikipedia.org/wiki/Kjer's_optic_neuropathy

    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 ...