Leber hereditary optic neuropathy
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA mutations. Three most common mutations, namely m.11778G>A, m.14484T>G, and m.3460G>A, account for the majority of LHON cases. These mutations lead to m...
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| Format: | Article |
| Language: | English |
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Vilnius University Press
2018-12-01
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| Series: | Neurologijos seminarai |
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| Online Access: | https://www.journals.vu.lt/neurologijos_seminarai/article/view/27816 |
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| _version_ | 1832593087075975168 |
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| author | R. Liutkevičienė A. Sidaraitė I. Kozlovskaja V. Ašmonienė N. Jurkutė |
| author_facet | R. Liutkevičienė A. Sidaraitė I. Kozlovskaja V. Ašmonienė N. Jurkutė |
| author_sort | R. Liutkevičienė |
| collection | DOAJ |
| description |
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA mutations. Three most common mutations, namely m.11778G>A, m.14484T>G, and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the age of 15–35 years, with male predominance.
LHON is associated with severe, subacute, and painless bilateral vision loss and accounts for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery has been reported in patients harbouring m.14484T>C mutation, however, this inherited optic neuropathy results in irreversible vision loss.
Up to date LHON treatment is limited. Idebenone has been approved by EMA to treat LHON. However, better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients.
In this article we summarize clinical presentation, diagnostic features, and treatment of LHON.
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| format | Article |
| id | doaj-art-c424153c89ec425992184f3477a361ca |
| institution | Kabale University |
| issn | 1392-3064 2424-5917 |
| language | English |
| publishDate | 2018-12-01 |
| publisher | Vilnius University Press |
| record_format | Article |
| series | Neurologijos seminarai |
| spelling | doaj-art-c424153c89ec425992184f3477a361ca2025-01-20T18:23:07ZengVilnius University PressNeurologijos seminarai1392-30642424-59172018-12-01224(78)10.29014/ns.2018.31Leber hereditary optic neuropathyR. Liutkevičienė 0A. Sidaraitė1I. Kozlovskaja 2V. Ašmonienė 3N. Jurkutė Lithuanian University of Health SciencesVilnius University, LithuaniaVilnius University, LithuaniaLithuanian University of Health Sciences Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA mutations. Three most common mutations, namely m.11778G>A, m.14484T>G, and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the age of 15–35 years, with male predominance. LHON is associated with severe, subacute, and painless bilateral vision loss and accounts for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery has been reported in patients harbouring m.14484T>C mutation, however, this inherited optic neuropathy results in irreversible vision loss. Up to date LHON treatment is limited. Idebenone has been approved by EMA to treat LHON. However, better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we summarize clinical presentation, diagnostic features, and treatment of LHON. https://www.journals.vu.lt/neurologijos_seminarai/article/view/27816Leber hereditary optic neuropathyetiologydiagnosistreatment |
| spellingShingle | R. Liutkevičienė A. Sidaraitė I. Kozlovskaja V. Ašmonienė N. Jurkutė Leber hereditary optic neuropathy Neurologijos seminarai Leber hereditary optic neuropathy etiology diagnosis treatment |
| title | Leber hereditary optic neuropathy |
| title_full | Leber hereditary optic neuropathy |
| title_fullStr | Leber hereditary optic neuropathy |
| title_full_unstemmed | Leber hereditary optic neuropathy |
| title_short | Leber hereditary optic neuropathy |
| title_sort | leber hereditary optic neuropathy |
| topic | Leber hereditary optic neuropathy etiology diagnosis treatment |
| url | https://www.journals.vu.lt/neurologijos_seminarai/article/view/27816 |
| work_keys_str_mv | AT rliutkeviciene leberhereditaryopticneuropathy AT asidaraite leberhereditaryopticneuropathy AT ikozlovskaja leberhereditaryopticneuropathy AT vasmoniene leberhereditaryopticneuropathy AT njurkute leberhereditaryopticneuropathy |