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Leber's hereditary optic

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https://www.readbyqxmd.com/read/28806189/the-use-of-optical-coherence-tomography-in-neuro-ophthalmology
#1
Noel C Y Chan, Carmen K M Chan
PURPOSE OF REVIEW: In the last decade, with the advances of optical coherence tomography (OCT) technology, different imaging protocols and analysis algorithms have been introduced to maximize the potential of this diagnostic tool in the evaluation of different eye diseases. This review aims to provide an update on these additional features, with respect to the management of a diverse range of neuro-ophthalmologic conditions. RECENT FINDINGS: Macular ganglion cell complex (mGCC) analysis has been shown to be superior to peripapillary retinal nerve fiber layer (pRNFL) analysis in certain settings, such as differentiating Leber's hereditary optic neuropathy from functional visual loss; monitoring neurodegenerative diseases or multiple sclerosis; and predicting visual loss in nonarteritic ischemic optic neuropathy...
August 12, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28802665/no-evidence-of-association-between-optic-neuritis-and-secondary-lhon-mtdna-mutations-in-patients-with-multiple-sclerosis
#2
Sasan Andalib, Mahnaz Talebi, Ebrahim Sakhinia, Mehdi Farhoudi, Homayoun Sadeghi-Bazargani, Nooshin Masoodian, Manouchehr Seyedi Vafaee, Albert Gjedde
Leber's Hereditary Optic Neuropathy (LHON) shares features with Multiple Sclerosis (MS). Both diseases develop optic lesions. Frequent secondary LHON mutations in MS patients may explain the optic damage. Here, we tested the hypothesis that secondary LHON mutations are associated with optic neuritis (ON) in MS patients. We recruited 56 MS subjects with ON and 47 MS subjects without ON. DNA was extracted by salting out, after sampling of peripheral blood from each participant. We completed Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis with appropriate primers and restriction endonucleases for seven secondary LHON mutations...
August 9, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28768321/leber-s-hereditary-optic-neuropathy-specific-mutation-m-11778g-a-exists-on-diverse-mitochondrial-haplogroups-in-india
#3
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, Sonika Sharma, Sundaramoorthy Srilekha, Selvakumar Ambika, Ayyasamy Vanniarajan, Angamuthu Kanikannan Meena, Megha S Uppin, Challa Sundaram, Parayil Sankaran Bindu, Narayanappa Gayathri, Arun B Taly, Kumarasamy Thangaraj
Purpose: Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neuropathy and blindness. Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28761322/optimization-of-a-genotyping-screening-based-on-hydrolysis-probes-to-detect-the-main-mutations-related-to-leber-hereditary-optic-neuropathy-lhon
#4
Fábio Tadeu Arrojo Martins, Paulo Maurício do Amor Divino Miranda, Marcela Scabello Amaral Fernandes, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato
PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA (mtDNA): m.G11778A, followed by m.T14484C and m.G3460A. The remaining 5% of cases of LHON are caused by rare mutations also present in mtDNA. Although conventional molecular tools for molecular screening of LHON are becoming popular, in most cases these tools are still expensive and time-consuming and are difficult to reproduce...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28745242/leber-s-heriditary-optic-neuropathy-the-shift-from-an-opthalmologic-disease-to-a-multi-systemic-paradigm
#5
Jasna Jancic, Stevan Stojanovic, Amalija Stojanovic, Ana Marija Milanovic, Blazo Nikolic, Nikola Ivancevic, Janko Samardzic
Leber's hereditary optic neuropathy is an inherited form of optic neuropathy, genetically and based on mitochondrial insufficiency causing bilateral loss of central vision mostly at a young age. Despite being one of the most common mitochondrial diseases, the explanation for its pathophysiological background and effective clinical solutions remain elusive. Widening the scope in the search for pathological findings beyond the optic system has yielded several non-ophthalmologic findings, which might imply that Leber's hereditary optic neuropathy is in fact a multi-systemic disease...
July 24, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28729193/the-pattern-of-retinal-ganglion-cell-dysfunction-in-leber-hereditary-optic-neuropathy
#6
A Majander, A G Robson, C João, G E Holder, P F Chinnery, A T Moore, M Votruba, A Stockman, P Yu-Wai-Man
Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern electroretinography and the photopic negative response) performed on 13 patients with acute and chronic LHON indicate early impairment of RGC cell body function and severe axonal dysfunction. Temporal, spatial and chromatic psychophysical tests performed on 7 patients with acute LHON and 4 patients with chronic LHON suggest severe involvement or loss of the midget, parasol and bistratified RGCs associated with all three principal visual pathways...
July 17, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28725290/the-discovery-of-the-flammer-syndrome-a-historical-and-personal-perspective
#7
REVIEW
Josef Flammer, Katarzyna Konieczka
This review describes the clinical and basic research that led to the description of Flammer syndrome. It is narrated from a personal perspective. This research was initiated by the observation of an increased long-term fluctuation of visual fields in a subgroup of glaucoma patients. As these patients had strikingly cold hands, peripheral blood flow was tested with a capillary microscopy, and vasospastic syndrome (VS) was diagnosed. Further studies on these patients revealed frequently weakened autoregulation of ocular blood flow and increased flow resistivity in retroocular vessels...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28716668/incomplete-penetrance-in-mitochondrial-optic-neuropathies
#8
Leonardo Caporali, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto, Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli
Incomplete penetrance characterizes the two most frequent inherited optic neuropathies, Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to genetic errors in the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA), respectively. For LHON, compelling evidence has accumulated on the complex interplay of mtDNA haplogroups and environmental interacting factors, whereas the nDNA remains essentially non informative. However, a compensatory mechanism of activated mitochondrial biogenesis and increased mtDNA copy number, possibly driven by a permissive nDNA background, is documented in LHON; when successful it maintains unaffected the mutation carriers, but in some individuals it might be hampered by tobacco smoking or other environmental factors, resulting in disease onset...
July 14, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28716667/pupillometric-evaluation-of-the-melanopsin-containing-retinal-ganglion-cells-in-mitochondrial-and-non-mitochondrial-optic-neuropathies
#9
Shakoor Ba-Ali, Henrik Lund-Andersen
In recent years, chromatic pupillometry is used in humans to evaluate the activity of melanopsin expressing intrinsic photosensitive retinal ganglion cells (ipRGCs). Blue light is used to stimulate the ipRGCs and red light activates the rod/cone photoreceptors. The late re-dilation phase of pupillary light reflex is primarily driven by the ipRGCs. Optic neuropathies i.e. Leber hereditary optic neuropathy (LHON), autosomal dominant optic atrophy (ADOA), nonarteritic anterior ischemic optic neuropathy (NAION), glaucoma, optic neuritis and idiopathic intracranial hypertension (IIH) are among the diseases, which have been subject to pupillometric studies...
July 14, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28668421/quantitative-assessment-of-optic-nerve-in-patients-with-leber-s-hereditary-optic-neuropathy-using-reduced-field-of-view-diffusion-tensor-imaging
#10
Ling Wang, Ke Fan, Yanqiu Zhang, Yanzi Chen, Qin Tian, Dapeng Shi
PURPOSE: To quantitatively analyze the optic nerve alterations in chronic Leber's hereditary optic neuropathy (LHON) using reduced field-of-view diffusion tensor imaging (rFOV-DTI) and evaluate the correlation of diffusion parameters with visual functional and peripapillary retinal nerve fiber layer (RNFL) thickness. METHODS: Twenty-five patients (50 affected optic nerves) with chronic LHON and 28 healthy controls (56 normal optic nerves) were enrolled. The rFOV-DTI was performed in the bilateral optic nerves for all the subjects...
August 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28668384/mitochondria-in-neuroinflammation-multiple-sclerosis-ms-leber-hereditary-optic-neuropathy-lhon-and-lhon-ms
#11
REVIEW
David Bargiela, Patrick F Chinnery
Mitochondrial dysfunction is associated with neuroinflammation and neurodegeneration disease, but its role as a driver in these processes is uncertain. Understanding the pathogenesis of inherited mitochondrial disorders may help us to uncover mechanisms involved during acquired mitochondrial dysfunction. We review the mechanisms of mitochondrial dysfunction in Leber's hereditary optic neuropathy and multiple sclerosis and discuss shared clinical and molecular features in both conditions. Targeting mitochondrial pathways involved in inflammation or apoptosis may be a possible therapeutic approach in multiple sclerosis...
June 28, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28652416/mitochondrial-membrane-dynamics-and-inherited-optic-neuropathies
#12
REVIEW
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos
Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#13
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28647203/gene-therapy-for-leber-hereditary-optic-neuropathy-low-and-medium-dose-visual-results
#14
John Guy, William J Feuer, Janet L Davis, Vittorio Porciatti, Phillip J Gonzalez, Rajeshwari D Koilkonda, Huijun Yuan, William W Hauswirth, Byron L Lam
PURPOSE: To determine the effects of AAV2(Y444,500,730F)-P1ND4v2 in patients with Leber hereditary optic neuropathy (LHON). DESIGN: Prospective open-label, unilateral single-dose, intravitreal injection of AAV2(Y444,500,730F)-P1ND4v2 per participant. PARTICIPANTS: Fourteen patients with visual loss and mutated G11778A mitochondrial DNA. METHODS: Intravitreal injection with the gene therapy vector AAV2(Y444,500,730F)-P1ND4v2 into 1 eye...
June 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#15
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28579746/psychological-morbidity-in-leber-s-hereditary-optic-neuropathy-depends-on-phenotypic-social-economic-and-genetic-factors
#16
COMMENT
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28528823/presymptomatic-visual-loss-in-leber-hereditary-optic-neuropathy-a%C3%A2-therapeutic-window-of-opportunity
#17
EDITORIAL
John J Chen, Michael C Brodsky
No abstract text is available yet for this article.
June 2017: Ophthalmology
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#18
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28459737/vision-loss-and-symmetric-basal-ganglia-lesions-in-leber-hereditary-optic-neuropathy
#19
Matthew A Mercuri, Halina White, Cristiano Oliveira
A 30-year-old woman with progressive vision loss was found to have asymptomatic, bilateral, and symmetric basal ganglia lesions on MRI and was later diagnosed with Leber hereditary optic neuropathy (LHON). The rare occurrence of basal ganglia changes on MRI in patients with LHON is discussed.
April 28, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28455970/mitochondrial-replacement-in-an-ipsc-model-of-leber-s-hereditary-optic-neuropathy
#20
Raymond C B Wong, Shiang Y Lim, Sandy S C Hung, Stacey Jackson, Shahnaz Khan, Nicole J Van Bergen, Elisabeth De Smit, Helena H Liang, Lisa S Kearns, Linda Clarke, David A Mackey, Alex W Hewitt, Ian A Trounce, Alice Pébay
Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.
April 2017: Aging
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