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Leber's hereditary optic

Josef Finsterer, Claudia Stollberger, Edmund Gatterer
This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber's hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt...
January 1, 2018: Journal of International Medical Research
Shilei Cui, Hanqiu Jiang, Jingting Peng, Jiawei Wang, Xiaojun Zhang
OBJECTIVE: To assess quality of life (QoL) measures in Chinese Leber hereditary optic neuropathy (LHON) patients with the G11778A mutation. METHODS: Chinese LHON patients with the G11778A mutation were prospectively evaluated using the Visual Function Index (VF-14) at 6 months, 1 year, and 3 years after the involvement of the second eye. Patients who completed the VF-14 at all 3 follow-up time designations were included in the analysis. RESULTS: Fifty-five patients met the inclusion criteria...
March 16, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Adam DeBusk, Mark L Moster
PURPOSE OF REVIEW: Highlight some of the recent advances in gene therapy and gene modification for optic nerve disease to promote axon regeneration, neuroprotection, and increased visual functioning. RECENT FINDINGS: Visual loss secondary to optic nerve damage occurs in numerous ophthalmologic and neurologic conditions. Damaged retinal ganglion cells (RGCs) do not regenerate once they undergo apoptosis after injury. Gene therapy has been studied to replace gene mutations in disorders affecting the optic nerve as well as to alter genes responsible for suppressing or activating pathways of optic nerve growth and regeneration...
March 13, 2018: Current Opinion in Ophthalmology
Ian M MacDonald, Pamela C Sieving
PURPOSE: To review the contributions to ophthalmic genetics through the American Journal of OphthalmologyDesign: Perspective. METHODS: A literature search to retrieve original articles, letters, editorials, and published lectures from 1966 to 2017, providing a 50 year review. Titles were excluded that gave no reference to genetics or presented findings related to a non-genetic ocular condition. RESULTS: From a search of the Scopus database, 719 articles were ascertained...
March 9, 2018: American Journal of Ophthalmology
Yi Shiau Ng, Nichola Z Lax, Paul Maddison, Charlotte L Alston, Emma L Blakely, Philippa D Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A Morris, Smaragda Kamakari, Georgia Chrousos, Richard J Rodenburg, Christiaan G J Saris, Catherine Feeney, Steven A Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G Hanna, Akira Ohtake, Andrew M Schaefer, Mike P Champion, Doug M Turnbull, Robert W Taylor, Robert D S Pitceathly, Robert McFarland, Gráinne S Gorman
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years (range: 5·4months-37years, IQR=17·9years). Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), and one with Leber hereditary optic neuropathy...
February 24, 2018: EBioMedicine
Klaus Rüther
Hereditary optic nerve disorders are rare. For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caused by mitchochondrial dysfunction. LHON is based on mutations of the mitochondrial, ADOA of the nuclear DNA. LHON is a disease that usually leads to severe visual impairment (visual acuity < 0.1). Since there is an approved therapy for LHON (Idebenone [Raxone]), the diagnosis has to be confirmed immediately by means of molecular genetic diagnostics...
February 28, 2018: Klinische Monatsblätter Für Augenheilkunde
Daniela Strobbe, Leonardo Caporali, Luisa Iommarini, Alessandra Maresca, Monica Montopoli, Andrea Martinuzzi, Alessandro Achilli, Anna Olivieri, Antonio Torroni, Valerio Carelli, Anna Ghelli
There is growing evidence that the sequence variation of mitochondrial DNA (mtDNA), which clusters in population- and/or geographic-specific haplogroups, may result in functional effects that, in turn, become relevant in disease predisposition or protection, interaction with environmental factors and ultimately in modulating longevity. To unravel functional differences between mtDNA haplogroups we here employed transmitochondrial cytoplasmic hybrid cells (cybrids) grown in galactose medium, culture condition that force oxidative phosphorylation, and in the presence of rotenone, the classic inhibitor of respiratory Complex I...
February 24, 2018: Neurobiology of Disease
Sonia Emperador, Mariona Vidal, Carmen Hernández-Ainsa, Cristina Ruiz-Ruiz, Daniel Woods, Ana Morales-Becerra, Jorge Arruga, Rafael Artuch, Ester López-Gallardo, M Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
The onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA mutation, present in heteroplasmy, associated with the disease. A patient follow-up showed a rapid recovery of the vision accompanied by a decrease of the percentage of mutated mtDNA. A retrospective study on the age of recovery of all childhood-onset Leber hereditary optic neuropathy patients reported in the literature suggested that this process was probably related with pubertal changes...
2018: Frontiers in Neuroscience
Mitsuhiro Matsuzaki, Yasuhiko Hirami, Hirofumi Uyama, Yasuo Kurimoto
Purpose: To present a report of longitudinal changes in radial peripapillary capillaries (RPC) and changes in retinal full thickness (RFT) and peripapillary retinal nerve fiber layer (RNFL) in a patient with Leber hereditary optic neuropathy (LHON). Observations: A 42-year-old man presented with acute- and presymptomatic-stage LHON in the left (OS) and right (OD) eyes, respectively, at the initial visit. Onset of LHON in the OD was observed 2 months after the initial visit...
March 2018: American Journal of Ophthalmology Case Reports
Viran Jayanetti, Michael Rossiter-Thornton, Domit Azar, Clare L Fraser
Ethambutol is utilised in the treatment of Mycobacterium avium and Mycobacterium tuberculosis infection. The authors report two siblings who developed the adverse effect of ethambutol-induced optic chiasmopathy, with recovery following cessation of ethambutol. Discussion explores potential genetic predisposition to development of this condition and its resolution. Ethambutol optic neuropathy (EON), Leber's hereditary optic neuropathy (LHON), and other optic neuropathies of mitochondrial origin share a common pathophysiology...
February 2018: Neuro-ophthalmology
Carolina Gonzalez-Riano, Miriam Sanz-Rodríguez, Juan Escudero-Ramirez, Mª Paz Lorenzo, Coral Barbas, Beatriz Cubelos, Antonia Garcia
The optic nerve is made of highly specialized neurons and the energetic supply to their axons is crucial due to their great demand. The energy comes basically through the oxidative phosphorylation in the mitochondria, supported by glial cells metabolism. Mitochondrial dysfunction is a shared feature encountered within the optic neuropathies, including Leber's Hereditary Optic Neuropathy, Leigh's Syndrome, or Kjer's syndrome. In an effort to investigate the metabolic alterations produced within the optic nerve in a mutant mouse model of Neurological Visual Disease (NVD), a rapid, robust, and efficient one-single phase extraction methodology has been developed and validated for the GC-MS platform...
May 10, 2018: Journal of Pharmaceutical and Biomedical Analysis
Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete, Dan Miléa
BACKRGROUND: Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber's hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multicenter pilot study. Only LHON patients aged 18 years or more, with confirmed primary mitochondrial DNA mutations and strictly unilateral optic neuropathy occurring within 6 months prior to enrolment, were included in the study. All these patients, receiving treatment with oral cyclosporine (Neoral®, Novartis) at 2...
February 17, 2018: Orphanet Journal of Rare Diseases
Carl Erb, Katarzyna Konieczka
Mitochondrial function is closely linked to numerous aspects of eye health. Imbalance between the creation of energy and the development of reactive oxygen species (ROS) seems to be the cause of the development of mitochondrial dysfunctions. As a result of this energy deficit, the level of oxidative stress in the eye tissues increases, leading to numerous ophthalmic impairments. It is important to distinguish between primary mitochondrial eye diseases and secondary mitochondrial changes. Primary mitochondrial eye diseases, for example Leber's hereditary optic atrophy (LHON), retinitis pigmentosa and chronic progressive external ophthalmoplegia are caused by direct damage to mitochondrial function induced by defective genes, either located on mitochondrial DNA (mtDNA) or the DNA of the nucleus (nDNA)...
February 2018: Klinische Monatsblätter Für Augenheilkunde
Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Maria Lucia Valentino, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Claudia Zanna, Rocco Liguori, Piero Barboni, Michele Carbonelli, Veronica Cocetta, Monica Montopoli, Andrea Martinuzzi, Giovanna Cenacchi, Giuseppe De Michele, Francesco Testa, Anna Nesti, Francesca Simonelli, Anna Maria Porcelli, Antonio Torroni, Valerio Carelli
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: first, the LHON phenotype is strictly inherited along the maternal line in one very large family; second, the combinations of mtDNA variants are unique to the two maternal lineages that are characterized by recurrence of LHON; third, the Complex I-dependent respiratory and oxidative phosphorylation defect is co-transferred from the proband's fibroblasts into the cybrid cell model...
February 14, 2018: PLoS Genetics
Huai-En Lu, Yi-Ping Yang, Yan-Ting Chen, You-Ren Wu, Chia-Lin Wang, Fu-Ting Tsai, De-Kuang Hwang, Tai-Chi Lin, Shih-Jen Chen, An-Guor Wang, Patrick C H Hsieh, Shih-Hwa Chiou
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. In this report, we generated an induced pluripotent stem cell (iPSCs) line, TVGH-iPSC-010-09, from the peripheral blood mononuclear cells of a female patient with Leber's hereditary optic neuropathy (LHON) by using the Sendai-virus delivery system. The resulting iPSCs retained the disease-causing mitochondrial DNA mutation, expressed pluripotent markers and could differentiate into the three germ layers...
January 31, 2018: Stem Cell Research
Catherine Vignal, Scott Uretsky, Serge Fitoussi, Anne Galy, Laure Blouin, Jean-François Girmens, Samuel Bidot, Nitza Thomasson, Céline Bouquet, Sonia Valero, Sandrine Meunier, Jean-Philippe Combal, Bernard Gilly, Barrett Katz, José-Alain Sahel
No abstract text is available yet for this article.
February 6, 2018: Ophthalmology
Richard A Manfready, Thomas R Hedges, Carlos E Mendoza-Santiesteban
No abstract text is available yet for this article.
February 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Yu Dai, Chenghui Wang, Zhipeng Nie, Jiamin Han, Ting Chen, Xiaoxu Zhao, Cheng Ai, Yanchun Ji, Tao Gao, Pingping Jiang
The present study investigates the spectrum and incidence of mitochondrial DNA (mtDNA) mutations associated with Leber's hereditary optic neuropathy (LHON) in a Han population using a multi-gene panel with 46 LHON-associated mutations among 13 mitochondrial genes. A total of 23 mutations were observed in a cohort of 275 patients and 281 control subjects using multi-gene panel analysis. The causative mutations associated with LHON were identified to be m.11778G>A, m.14484T>C, m.3460 G>A, m.3635G>A, m...
January 2018: Biomedical Reports
Christophe Orssaud
BACKGROUND: Cardiac abnormalities have been described in patients with Leber hereditary optic neuropathy (LHON). Some are life-threatening because of the risk of ventricular fibrillation and sudden death. The purpose of our study was to better characterize the cardiac abnormalities in a large patient cohort with LHON. METHODS: A retrospective study of the electrocardiogram (EKG) results performed on all patients with LHON evaluated at The Reference Center for Rare Diseases in Ophthalmology, Paris, France, from January 2015 to June 2017...
January 30, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Johanna Maass, Egbert Matthé
PURPOSE: Leber's hereditary optic neuropathy is relatively rare, and no clinical pathognomonic signs exist. We present a rare case of bilateral vision loss of a patient with multiple drug abuse in the history. OBSERVATION: A 31-year-old man presented with a history of progressive, decreased vision in both eyes for 6 month. On examination, his visual acuity was hand motion in both eyes. Funduscopy demonstrated a temporal pallor of the optic disc. Goldmann visual field perimetry showed a crescent visual field in the right eye and a circular decrease to less than 50 ° in the left eye...
January 25, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
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