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- Q2869820 subject Q8382037.
- Q2869820 abstract "Dominant optic atrophy, or dominant optic atrophy, Kjer's type, is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. 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. Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves) aside from glaucoma, it is often misdiagnosed.".
- Q2869820 icd9 "377.16".
- Q2869820 meshId "D029241".
- Q2869820 omim "165500".
- Q2869820 wikiPageExternalLink entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4976.
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- Q2869820 wikiPageExternalLink Case47-AutosomalDominantOpticAtrophy.htm.
- Q2869820 wikiPageExternalLink www.kjer-france.org.
- Q2869820 wikiPageExternalLink uk-OA.pdf.
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- Q2869820 wikiPageWikiLink Q8382037.
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- Q2869820 wikiPageWikiLink Q945238.
- Q2869820 wikiPageWikiLink Q950591.
- Q2869820 icd "377.16".
- Q2869820 meshid "D029241".
- Q2869820 name "Kjer's optic neuropathy".
- Q2869820 omim "165500".
- Q2869820 type Disease.
- Q2869820 type Thing.
- Q2869820 type Q12136.
- Q2869820 comment "Dominant optic atrophy, or dominant optic atrophy, Kjer's type, is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. 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.".
- Q2869820 label "Kjer's optic neuropathy".
- Q2869820 name "Kjer's optic neuropathy".