The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by a painless, acute loss of central vision, with 95% of affected individuals harbouring one of three pathogenic mutations (G11778GA, G3460A, or T14484C). The purpose of this review is to highlight the distinguishing...
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| Format: | Article |
| Language: | English |
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University of Ottawa
2018-11-01
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| Series: | University of Ottawa Journal of Medicine |
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| Online Access: | https://uottawa.scholarsportal.info/ottawa/index.php/uojm-jmuo/article/view/3846 |
| _version_ | 1818689214876745728 |
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| author | Henry Liu |
| author_facet | Henry Liu |
| author_sort | Henry Liu |
| collection | DOAJ |
| description | Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by a painless, acute loss of central vision, with 95% of affected individuals harbouring one of three pathogenic mutations (G11778GA, G3460A, or T14484C). The purpose of this review is to highlight the distinguishing clinical presentations of the disease with respect to the mutation subtype and present our recent understanding of two unique features of the disease: male predominance and incomplete penetrance. We also review recent advancements made in the diagnosis and treatment of this rare mitochondrial disease and their implications for genetic counselling. |
| first_indexed | 2024-12-17T12:06:33Z |
| format | Article |
| id | doaj.art-99fc1734d409411d8994e692fc45d6a1 |
| institution | Directory Open Access Journal |
| issn | 2292-650X 2292-6518 |
| language | English |
| last_indexed | 2024-12-17T12:06:33Z |
| publishDate | 2018-11-01 |
| publisher | University of Ottawa |
| record_format | Article |
| series | University of Ottawa Journal of Medicine |
| spelling | doaj.art-99fc1734d409411d8994e692fc45d6a12022-12-21T21:49:36ZengUniversity of OttawaUniversity of Ottawa Journal of Medicine2292-650X2292-65182018-11-018210.18192/uojm.v8i2.3846The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature ReviewHenry LiuLeber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by a painless, acute loss of central vision, with 95% of affected individuals harbouring one of three pathogenic mutations (G11778GA, G3460A, or T14484C). The purpose of this review is to highlight the distinguishing clinical presentations of the disease with respect to the mutation subtype and present our recent understanding of two unique features of the disease: male predominance and incomplete penetrance. We also review recent advancements made in the diagnosis and treatment of this rare mitochondrial disease and their implications for genetic counselling.https://uottawa.scholarsportal.info/ottawa/index.php/uojm-jmuo/article/view/3846LHONLeber's Hereditary Optic Neuropathy |
| spellingShingle | Henry Liu The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review University of Ottawa Journal of Medicine LHON Leber's Hereditary Optic Neuropathy |
| title | The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review |
| title_full | The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review |
| title_fullStr | The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review |
| title_full_unstemmed | The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review |
| title_short | The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review |
| title_sort | genetics of leber s hereditary optic neuropathy a literature review |
| topic | LHON Leber's Hereditary Optic Neuropathy |
| url | https://uottawa.scholarsportal.info/ottawa/index.php/uojm-jmuo/article/view/3846 |
| work_keys_str_mv | AT henryliu thegeneticsoflebershereditaryopticneuropathyaliteraturereview AT henryliu geneticsoflebershereditaryopticneuropathyaliteraturereview |