Treatment options for Leber hereditary optic neuropathy
Leber hereditary optic neuropathy (LHON) is the most common hereditary optical neuropathy caused by primary mutations in mitochondrial DNA. LHON manifests as opticnerve atrophy and loss of central vision. In about 70% of LHON cases three major mutations in mitochondrial DNA: 11778G>A/ND4, 3460G&...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Vilnius University Press
2018-12-01
|
| Series: | Neurologijos seminarai |
| Subjects: | |
| Online Access: | https://www.journals.vu.lt/neurologijos_seminarai/article/view/27817 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832593095650181120 |
|---|---|
| author | I. Povilaitytė R. Liutkevičienė |
| author_facet | I. Povilaitytė R. Liutkevičienė |
| author_sort | I. Povilaitytė |
| collection | DOAJ |
| description |
Leber hereditary optic neuropathy (LHON) is the most common hereditary optical neuropathy caused by primary mutations in mitochondrial DNA. LHON manifests as opticnerve atrophy and loss of central vision. In about 70% of LHON cases three major mutations in mitochondrial DNA: 11778G>A/ND4, 3460G>A/ND1 and 14484T>C/ND6 are detected. Literature also describes more than 18 novel mtDNA mutations associated with LHON and the dysfunction of mitochondrial electron transport chains. Due to this dysfunction, ATP synthesis decreases and the level of oxidative stress in ganglion cells of the retina increases, which leads to cell degeneration and apoptosis.
In this article, we review the main manifestations of Leber hereditary optic neuropathy and its treatment options.
|
| format | Article |
| id | doaj-art-e98c9149e2b9414c83c706f46b0bbaec |
| 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-e98c9149e2b9414c83c706f46b0bbaec2025-01-20T18:23:06ZengVilnius University PressNeurologijos seminarai1392-30642424-59172018-12-01224(78)10.29014/ns.2018.32Treatment options for Leber hereditary optic neuropathyI. Povilaitytė 0R. Liutkevičienė 1Lithuanian University of Health SciencesLithuanian University of Health Sciences Leber hereditary optic neuropathy (LHON) is the most common hereditary optical neuropathy caused by primary mutations in mitochondrial DNA. LHON manifests as opticnerve atrophy and loss of central vision. In about 70% of LHON cases three major mutations in mitochondrial DNA: 11778G>A/ND4, 3460G>A/ND1 and 14484T>C/ND6 are detected. Literature also describes more than 18 novel mtDNA mutations associated with LHON and the dysfunction of mitochondrial electron transport chains. Due to this dysfunction, ATP synthesis decreases and the level of oxidative stress in ganglion cells of the retina increases, which leads to cell degeneration and apoptosis. In this article, we review the main manifestations of Leber hereditary optic neuropathy and its treatment options. https://www.journals.vu.lt/neurologijos_seminarai/article/view/27817Leber hereditary optic neuropathyetiologydiagnosistreatment |
| spellingShingle | I. Povilaitytė R. Liutkevičienė Treatment options for Leber hereditary optic neuropathy Neurologijos seminarai Leber hereditary optic neuropathy etiology diagnosis treatment |
| title | Treatment options for Leber hereditary optic neuropathy |
| title_full | Treatment options for Leber hereditary optic neuropathy |
| title_fullStr | Treatment options for Leber hereditary optic neuropathy |
| title_full_unstemmed | Treatment options for Leber hereditary optic neuropathy |
| title_short | Treatment options for Leber hereditary optic neuropathy |
| title_sort | treatment options for leber hereditary optic neuropathy |
| topic | Leber hereditary optic neuropathy etiology diagnosis treatment |
| url | https://www.journals.vu.lt/neurologijos_seminarai/article/view/27817 |
| work_keys_str_mv | AT ipovilaityte treatmentoptionsforleberhereditaryopticneuropathy AT rliutkeviciene treatmentoptionsforleberhereditaryopticneuropathy |