Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy.
Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunit...
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0063446&type=printable |
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| author | Anais Thouin Philip G Griffiths Gavin Hudson Patrick F Chinnery Patrick Yu-Wai-Man |
| author_facet | Anais Thouin Philip G Griffiths Gavin Hudson Patrick F Chinnery Patrick Yu-Wai-Man |
| author_sort | Anais Thouin |
| collection | DOAJ |
| description | Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunits of the mitochondrial respiratory chain. LHON is characterised by marked incomplete penetrance, clearly implying that the mtDNA mutation is insufficient on its own to trigger retinal ganglion cell dysfunction and visual loss. In this case series of three affected patients harbouring the m.11778G>A mutation, we provide evidence suggesting that raised intraocular pressure could be a risk factor triggering visual loss in at-risk LHON carriers. |
| format | Article |
| id | doaj-art-3f4ad905d9974aec8542e17a78b892d2 |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-3f4ad905d9974aec8542e17a78b892d22025-08-20T02:30:37ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0185e6344610.1371/journal.pone.0063446Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy.Anais ThouinPhilip G GriffithsGavin HudsonPatrick F ChinneryPatrick Yu-Wai-ManLeber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunits of the mitochondrial respiratory chain. LHON is characterised by marked incomplete penetrance, clearly implying that the mtDNA mutation is insufficient on its own to trigger retinal ganglion cell dysfunction and visual loss. In this case series of three affected patients harbouring the m.11778G>A mutation, we provide evidence suggesting that raised intraocular pressure could be a risk factor triggering visual loss in at-risk LHON carriers.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0063446&type=printable |
| spellingShingle | Anais Thouin Philip G Griffiths Gavin Hudson Patrick F Chinnery Patrick Yu-Wai-Man Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. PLoS ONE |
| title | Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. |
| title_full | Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. |
| title_fullStr | Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. |
| title_full_unstemmed | Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. |
| title_short | Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy. |
| title_sort | raised intraocular pressure as a potential risk factor for visual loss in leber hereditary optic neuropathy |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0063446&type=printable |
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