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Leber’s hereditary optic neuropathy - Case report

Leber’s hereditary optic neuropathy is the most common mitochondrial condition and is characterized by bilateral, painless, subacute visual loss that develops during young adult life. LHON is a rare condition and this lack of knowledge can make doctors suspect and treat for other causes of vision lo...

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Autores principales: Iorga, Raluca Eugenia, Mihailovici, Ruxandra, Ozturk, Manuela Ramona, Costin, Dănuţ
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Romanian Society of Ophthalmology 2018
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959027/
https://www.ncbi.nlm.nih.gov/pubmed/29796436
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author Iorga, Raluca Eugenia
Mihailovici, Ruxandra
Ozturk, Manuela Ramona
Costin, Dănuţ
author_facet Iorga, Raluca Eugenia
Mihailovici, Ruxandra
Ozturk, Manuela Ramona
Costin, Dănuţ
author_sort Iorga, Raluca Eugenia
collection PubMed
description Leber’s hereditary optic neuropathy is the most common mitochondrial condition and is characterized by bilateral, painless, subacute visual loss that develops during young adult life. LHON is a rare condition and this lack of knowledge can make doctors suspect and treat for other causes of vision loss. Typically, a series of tests are performed to confirm LHON diagnosis or exclude any other conditions. We presented the case of two brothers, HB, of 40 years old and HF, of 38 years old, who presented with a decrease in visual acuity in both eyes. The patients had been diagnosed with optic atrophy of unknown cause a long time ago, but no further investigations were made. They were treated with corticosteroids, antioxidants and vasodilators, but with no significant benefit. A blood test of the mitochondrial DNA, a magnetic resonance imaging and an optic coherence tomography of the optic nerve and macula were part of the following assessment of our patients. The mitochondrial DNA analyses revealed the 3460 G>A mutation on the mtND1 gene in both patients. Based on the medical history, the fundus aspect, the optic coherence tomography and the paraclinical investigations of the diagnosis of Leber’s hereditary optic neuropathy were established in both patients. We started the treatment with idebenone and we evaluated the patients after three months. Abbreviations: LHON = Leber’s hereditary optic neuropathy, mtDNA = mitochondrial DNA, VA = visual acuity, CF = count fingers, OCT = optical coherence tomography, RNFL = retinal nerve fiber layer, GCL = ganglion cells layer, MS = multiple sclerosis, MRI = magnetic resonance imaging, MTI = magnetization transfer imaging, MTR = magnetization transfer ratio
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spelling pubmed-59590272018-05-24 Leber’s hereditary optic neuropathy - Case report Iorga, Raluca Eugenia Mihailovici, Ruxandra Ozturk, Manuela Ramona Costin, Dănuţ Rom J Ophthalmol Case Reports Leber’s hereditary optic neuropathy is the most common mitochondrial condition and is characterized by bilateral, painless, subacute visual loss that develops during young adult life. LHON is a rare condition and this lack of knowledge can make doctors suspect and treat for other causes of vision loss. Typically, a series of tests are performed to confirm LHON diagnosis or exclude any other conditions. We presented the case of two brothers, HB, of 40 years old and HF, of 38 years old, who presented with a decrease in visual acuity in both eyes. The patients had been diagnosed with optic atrophy of unknown cause a long time ago, but no further investigations were made. They were treated with corticosteroids, antioxidants and vasodilators, but with no significant benefit. A blood test of the mitochondrial DNA, a magnetic resonance imaging and an optic coherence tomography of the optic nerve and macula were part of the following assessment of our patients. The mitochondrial DNA analyses revealed the 3460 G>A mutation on the mtND1 gene in both patients. Based on the medical history, the fundus aspect, the optic coherence tomography and the paraclinical investigations of the diagnosis of Leber’s hereditary optic neuropathy were established in both patients. We started the treatment with idebenone and we evaluated the patients after three months. Abbreviations: LHON = Leber’s hereditary optic neuropathy, mtDNA = mitochondrial DNA, VA = visual acuity, CF = count fingers, OCT = optical coherence tomography, RNFL = retinal nerve fiber layer, GCL = ganglion cells layer, MS = multiple sclerosis, MRI = magnetic resonance imaging, MTI = magnetization transfer imaging, MTR = magnetization transfer ratio Romanian Society of Ophthalmology 2018 /pmc/articles/PMC5959027/ /pubmed/29796436 Text en ©Romanian Society of Ophthalmology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Iorga, Raluca Eugenia
Mihailovici, Ruxandra
Ozturk, Manuela Ramona
Costin, Dănuţ
Leber’s hereditary optic neuropathy - Case report
title Leber’s hereditary optic neuropathy - Case report
title_full Leber’s hereditary optic neuropathy - Case report
title_fullStr Leber’s hereditary optic neuropathy - Case report
title_full_unstemmed Leber’s hereditary optic neuropathy - Case report
title_short Leber’s hereditary optic neuropathy - Case report
title_sort leber’s hereditary optic neuropathy - case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959027/
https://www.ncbi.nlm.nih.gov/pubmed/29796436
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