Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management Strategies
Leber hereditary optic neuropathy (LHON) is an inherited optic neuropathy that can result in bilateral visual loss in young adults, especially in males. Majority of LHON is caused by one of the three primary mitochondrial mutations: m.3460G4A, m.11778G4A, and m.14484T4C. Apart from these, various se...
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Wolters Kluwer Medknow Publications
2017-07-01
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| Series: | Delhi Journal of Ophthalmology |
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| Online Access: | https://journals.lww.com/10.7869/djo.236 |
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| author | Saranya Devi Anita Ganger Sagnik Sen Rohit Saxena |
| author_facet | Saranya Devi Anita Ganger Sagnik Sen Rohit Saxena |
| author_sort | Saranya Devi |
| collection | DOAJ |
| description | Leber hereditary optic neuropathy (LHON) is an inherited optic neuropathy that can result in bilateral visual loss in young adults, especially in males. Majority of LHON is caused by one of the three primary mitochondrial mutations: m.3460G4A, m.11778G4A, and m.14484T4C. Apart from these, various secondary mutations can also cause LHON. These mutations affect the electron transfer in complex I of the respiratory chain, leading on to mitochondrial dysfunction. This in turn causes apoptosis of retinal ganglion cells (RGCs) especially in the papillomacular bundle. These series of events result in visual loss, resulting in characteristic clinical features such as sudden, painless visual decline which may be unilateral or bilateral, dyschromatopsia, central or centrocecal scotoma in perimetry, relatively spared pupillary reflexes, telangiectatic changes in the retinal vessels, disc hyperaemia or atrophy. A proportion of these patients can have associated systemic features such as ataxia, neurological deficits, myopathy & dystonia. This subset is termed as “LHON plus” type. Treatment is largely supportive and includes visual rehabilitation. Various agents such as mitochondrial cocktails, ubiquinone analogues, neuroprotective agents, steroids, immunosupressants and EPI-743 have been tried with some benefit. Novel approaches such as gene replacement therapy and stem cell therapy are being explored in the management of LHON. The search of published literature for this review article had been completed using Ovid, Medline, Embase, Pubmed over the last 5 decades. English language articles with full text access were included and electronic literature search was performed using leber, hereditary, optic nerve, neuropathy as key words. |
| format | Article |
| id | doaj-art-171d70e738fb4b51a911307acb995f07 |
| institution | OA Journals |
| issn | 0972-0200 2454-2784 |
| language | English |
| publishDate | 2017-07-01 |
| publisher | Wolters Kluwer Medknow Publications |
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| series | Delhi Journal of Ophthalmology |
| spelling | doaj-art-171d70e738fb4b51a911307acb995f072025-08-20T02:10:57ZengWolters Kluwer Medknow PublicationsDelhi Journal of Ophthalmology0972-02002454-27842017-07-0127316617110.7869/djo.236Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management StrategiesSaranya DeviAnita GangerSagnik SenRohit SaxenaLeber hereditary optic neuropathy (LHON) is an inherited optic neuropathy that can result in bilateral visual loss in young adults, especially in males. Majority of LHON is caused by one of the three primary mitochondrial mutations: m.3460G4A, m.11778G4A, and m.14484T4C. Apart from these, various secondary mutations can also cause LHON. These mutations affect the electron transfer in complex I of the respiratory chain, leading on to mitochondrial dysfunction. This in turn causes apoptosis of retinal ganglion cells (RGCs) especially in the papillomacular bundle. These series of events result in visual loss, resulting in characteristic clinical features such as sudden, painless visual decline which may be unilateral or bilateral, dyschromatopsia, central or centrocecal scotoma in perimetry, relatively spared pupillary reflexes, telangiectatic changes in the retinal vessels, disc hyperaemia or atrophy. A proportion of these patients can have associated systemic features such as ataxia, neurological deficits, myopathy & dystonia. This subset is termed as “LHON plus” type. Treatment is largely supportive and includes visual rehabilitation. Various agents such as mitochondrial cocktails, ubiquinone analogues, neuroprotective agents, steroids, immunosupressants and EPI-743 have been tried with some benefit. Novel approaches such as gene replacement therapy and stem cell therapy are being explored in the management of LHON. The search of published literature for this review article had been completed using Ovid, Medline, Embase, Pubmed over the last 5 decades. English language articles with full text access were included and electronic literature search was performed using leber, hereditary, optic nerve, neuropathy as key words.https://journals.lww.com/10.7869/djo.236lhontreatment strategiesneuropathy |
| spellingShingle | Saranya Devi Anita Ganger Sagnik Sen Rohit Saxena Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management Strategies Delhi Journal of Ophthalmology lhon treatment strategies neuropathy |
| title | Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management Strategies |
| title_full | Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management Strategies |
| title_fullStr | Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management Strategies |
| title_full_unstemmed | Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management Strategies |
| title_short | Leber Hereditary Optic Neuropathy (LHON)- Past, Present & Future Management Strategies |
| title_sort | leber hereditary optic neuropathy lhon past present future management strategies |
| topic | lhon treatment strategies neuropathy |
| url | https://journals.lww.com/10.7869/djo.236 |
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