keyword
MENU ▼
Read by QxMD icon Read
search

Leber's hereditary optic

keyword
https://www.readbyqxmd.com/read/29779933/-hereditary-optic-neuropathies-in-pediatric-ophthalmology
#1
C Orssaud, M P Robert, D Bremond Gignac
INTRODUCTION: Hereditary optic neuropathies (HON) often begin in adulthood. However, some of them can have an early onset. These may have specific clinical features and natural histories. PATIENTS AND METHODS: Retrospective study of HON patients with onset before the age of 14 years seen in a referral center. In addition to the age of onset, we evaluated the genetic etiology, visual acuity at 15 years, last best corrected visual acuity, optic disc appearance, visual field and extra-ophthalmological manifestations...
May 17, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29775755/whole-genome-sequencing-and-bioinformatics-analysis-of-two-egyptian-genomes
#2
Mahmoud ElHefnawi, Sungwon Jeon, Youngjune Bhak, Asmaa ElFiky, Ahmed Horaiz, JeHoon Jun, Hyunho Kim, Jong Bhak
We report two Egyptian male genomes (EGP1 and EGP2) sequenced at ~ 30× sequencing depths. EGP1 had 4.7 million variants, where 198,877 were novel variants while EGP2 had 209,109 novel variants out of 4.8 million variants. The mitochondrial haplogroup of the two individuals were identified to be H7b1 and L2a1c, respectively. We also identified the Y haplogroup of EGP1 (R1b) and EGP2 (J1a2a1a2 > P58 > FGC11). EGP1 had a mutation in the NADH gene of the mitochondrial genome ND4 (m.11778 G > A) that causes Leber's hereditary optic neuropathy...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29774306/leber-s-hereditary-optic-neuropathy-lhon-in-an-apulian-cohort-of-subjects
#3
Angelica Bianco, Luigi Bisceglia, Paolo Trerotoli, Luciana Russo, Leonardo D'Agruma, Silvana Guerriero, Vittoria Petruzzella
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, presence of 'ancillary' mtDNA mutations, and mtDNA copy number are probably correlated with the penetrance and the severity of the disease. In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subjects harbored the m...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29771891/-leber-hereditary-optic-neuropathy
#4
I O Mazunin, N V Volodko
Leber hereditary optic neuropathy is characterized by bilateral, painless loss of vision in children and young adults (generally up to 25 years old). Since its first description in 1871, the understanding of its etiology and pathogenesis has improved considerably. The article considers Leber neuropathy from the points of view of ophthalmology, neurology and molecular genetics, and presents data on experimental treatment methods, one of which is undergoing clinical trial.
2018: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/29750122/analysis-of-visual-field-defects-obtained-with-semiautomated-kinetic-perimetry-in-patients-with-leber-hereditary-optic-neuropathy
#5
Katarzyna Nowomiejska, Agnieszka Kiszka, Edyta Koman-Wierdak, Katarzyna Tonska, Ryszard Maciejewski, Anselm G Jünemann, Robert Rejdak
Purpose: To analyse visual field (VF) defects obtained using semiautomated kinetic perimetry (SKP) in patients suffering from Leber hereditary optic neuropathy (LHON). Methods: Twenty-two eyes of eleven consecutive LHON male patients with confirmed mitochondrial 11778G>A DNA mutation were prospectively examined with the V4e stimulus of SKP in both eyes. The mean time after the onset of LHON was one year. The area of obtained isopters was measured in square degrees (deg2 )...
2018: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29725659/renal-artery-aneurysm-associated-with-leber-hereditary-optic-neuropathy
#6
Ruth Ellen Jones, Jessica Lee, Mujtaba M Ali
Leber hereditary optic neuropathy is an inherited, rare, mitochondrial metabolic disease that leads to progressive vision loss due to the accumulation of reactive oxygen species. The disorder has been associated with microangiopathy and macroangiopathy. We present a novel case of saccular left renal artery aneurysm in a 27-year-old man with known Leber hereditary optic neuropathy. The lesion was asymptomatic and grew from 1.8 to 2.0 cm during the course of 1 year. We successfully performed an endovascular left renal artery aneurysm repair...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29649796/visual-field-variability-after-gene-therapy-for-leber-s-hereditary-optic-neuropathy
#7
Jia-Jia Yuan, Yong Zhang, Li-Ling Wang, Ming-Shi Cheng, Si-Qi Ma, Qin Gao, Bin Li
PURPOSE: To assess changes in visual field (VF) values after gene therapy for Leber's hereditary optic neuropathy (LHON). METHODS: VF recovery, VF indices, and mean deviation in injected and uninjected eyes, before and after gene therapy, were examined in 2 groups of patients according to disease duration (≤2 years and > 2 years). Nine patients with LHON were treated by monocular intravitreal injection of AAV2-ND4. Finally, 7 patients were considered for subsequent comparisons; the first and second eyes were treated separately...
April 12, 2018: Ophthalmic Research
https://www.readbyqxmd.com/read/29615737/longterm-reversal-of-severe-visual-loss-by-mitochondrial-gene-transfer-in-a-mouse-model-of-leber-hereditary-optic-neuropathy
#8
Hong Yu, Vittorio Porciatti, Alfred Lewin, William Hauswirth, John Guy
In many human disorders mitochondrial dysfunction is central to degeneration of retinal ganglion cells. As these cells do not regenerate, vision is irreversibly lost. Here we show reversal of visual dysfunction by a mitochondrially targeted adeno associated virus in transgenic mice harboring a G11778A mutation in the ND4 subunit of complex I persists longterm and it is associated with reduced loss of RGCs and their axons, improved oxidative phosphorylation, persistence of transferred ND4 DNA and transcription of ND4 mRNA...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29579248/leber-s-hereditary-optic-neuropathy-lhon-associated-nd5-12338t-c-mutation-altered-the-assembly-and-function-of-complex-i-apoptosis-and-mitophagy
#9
Juanjuan Zhang, Yanchun Ji, Yuanyuan Lu, Runing Fu, Man Xu, Xiaoling Liu, Min-Xin Guan
Mutations in mitochondrial DNA (mtDNA) have been associated with Leber's hereditary optic neuropathy (LHON) and their pathophysiology remains poorly understood. In this study, we demonstrated that a missense mutation (m.12338T>C, p.1M>T) in the ND5 gene contributed to the pathogenesis of LHON. The m.12338T>C mutation affected the first methionine (Met1) with a threonine and shortened two amino acids of ND5. We therefore hypothesized that the mutated ND5 perturbed the structure and function of complex I...
March 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29562793/wolff-parkinson-white-syndrome-and-noncompaction-in-leber-s-hereditary-optic-neuropathy-due-to-the-variant-m-3460g-a
#10
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
https://www.readbyqxmd.com/read/29554000/evaluation-of-vision-related-quality-of-life-in-chinese-patients-with-leber-hereditary-optic-neuropathy-and-the-g11778a-mutation
#11
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
https://www.readbyqxmd.com/read/29538182/gene-therapy-in-optic-nerve-disease
#12
REVIEW
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...
May 2018: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/29530780/ajo-centennial-ajo-contributions-to-ophthalmic-genetics
#13
Ian M MacDonald, Pamela C Sieving
PURPOSE: To review the contributions to ophthalmic genetics through the American Journal of Ophthalmology (AJO). DESIGN: 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 that presented findings related to a nongenetic ocular condition. RESULTS: From a search of the Scopus database, 719 articles were ascertained...
March 9, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29506874/mt-nd5-mutation-exhibits-highly-variable-neurological-manifestations-at-low-mutant-load
#14
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...
April 2018: EBioMedicine
https://www.readbyqxmd.com/read/29490390/-hereditary-optic-neuropathies
#15
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
https://www.readbyqxmd.com/read/29486301/haplogroup-j-mitogenomes-are-the-most-sensitive-to-the-pesticide-rotenone-relevance-for-human-diseases
#16
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, a culture condition that forces oxidative phosphorylation, and in the presence of rotenone, the classic inhibitor of respiratory Complex I...
June 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29479304/the-decrease-in-mitochondrial-dna-mutation-load-parallels-visual-recovery-in-a-leber-hereditary-optic-neuropathy-patient
#17
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
https://www.readbyqxmd.com/read/29468220/optical-coherence-tomography-angiography-changes-in-radial-peripapillary-capillaries-in-leber-hereditary-optic-neuropathy
#18
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
https://www.readbyqxmd.com/read/29467808/sibling-ethambutol-optic-chiasmopathy
#19
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
https://www.readbyqxmd.com/read/29459235/target-and-untargeted-gc-ms-based-metabolomic-study-of-mouse-optic-nerve-and-its-potential-in-the-study-of-neurological-visual-diseases
#20
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
keyword
keyword
13717
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"