References
- LeberTUeber hereditäre und congenital-angelegte Sehnervenleiden [About hereditary and congenital optic nerve disorders]Albrecht Von Graefes Arch Klin Exp Ophthalmol187117249291 German
- WallaceDA new manifestation of Leber’s disease and a new explanation for the agency responsible for its unusual pattern of inheritanceBrain1970931211325418396
- WallaceDSinghGLottMMitochondrial DNA mutation associated with Leber’s hereditary optic neuropathyScience1988242142714303201231
- CarelliVRoss-CisnerosFNSadunAMitochondrial dysfunction as a cause of optic neuropathiesProg Retin Eye Res200423538914766317
- NewmanNJHereditary optic neuropathies: from the mitochondria to the optic nerveAm J Ophthalmol200514051752316083845
- Riordan-EvaPNeuro-ophthalmology of mitochondrial diseasesCurr Opin Opthalmol200011408412
- Yu-Wai-ManPGriffithsPGHudsonGChinneryPFInherited mitochondrial optic neuropathiesJ Med Genet20094614515819001017
- ManPGriffithsPBrownDThe epidemiology of Leber hereditary optic neuropathy in the North East of EnglandAm J Hum Genet20037233333912518276
- SpruijtLKolbachDNde CooRFInfluence of mutation type on clinical expression of Leber hereditary optic neuropathyAm J Ophthalmol200614167668216564802
- PuomilaAHämäläinenPKiviojaSEpidemiology and penetrance of Leber hereditary optic neuropathy in FinlandEur J Hum Genet2007151079108917406640
- GiraudetSLamirelCAmati-BonneauPNever too old to harbour a young man’s disease?Br J Ophthalmol20119588789620675733
- Riordan-EvaPHardingADa CostaJSandersMGovanGSweeneyMThe clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutationBrain1995118Pt 23193377735876
- BiousseVBrownMNewmanNDe novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber’s hereditary optic neuropathyNeurology199749113611389339703
- HardingASweeneyMPedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutationAm J Hum Genet19955777867611298
- DiMauroSSchonEAMitochondrial disorders in the nervous systemAnnu Rev Neurosci2008319112318333761
- NewmanNJBiousseVNewmanSAProgression of visual field defects in Leber hereditary optic neuropathy: experience of the LHON treatment trialAm J Ophthalmol20061411061106716765674
- La MorgiaCRoss-CisnerosFNSadunAAMelanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathiesBrain2010133Pt 82426243820659957
- MouraALANagyBVLa MorgiaCThe pupil light reflex in Leber’s hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cellsInvest Ophthalmol Vis Sci2013544471447723737476
- JacobsonDMStoneEMMillerNRRelative afferent pupillary defects in patients with Leber hereditary optic neuropathy and unilateral visual lossAm J Ophthalmol19981262912959727524
- Yu-Wai-ManPGriffithsPGChinneryPFMitochondrial optic neuropathies – disease mechanisms and therapeutic strategiesProg Retin Eye Res2011308111421112411
- Yu-Wai-ManPVotrubaMMooreATChinneryPFTreatment strategies for inherited optic neuropathies: past, present and futureEye20142852153724603424
- MashimaYKimuraIYamamotoYOptic disc excavation in the atrophic stage of Leber’s hereditary optic neuropathy: comparison with normal tension glaucomaGraefes Arch Clin Exp Ophthalmol2003241758012605258
- BarboniPCarbonelliMSaviniGNatural history of Leber’s hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomographyOphthalmology201011762362720031228
- BarboniPSaviniGValentinoMLRetinal nerve fiber layer evaluation by optical coherence tomography in Leber’s hereditary optic neuropathyOphthalmology200511212012615629831
- ZhangYHuangHWeiSCharacterization of macular thickness changes in Leber’s hereditary optic neuropathy by optical coherence tomographyBMC Ophthalmol20141410525179213
- DorfmanLJNikoskelainenERosenthalARSoggRLVisual evoked potentials in Leber’s hereditary optic neuropathyAnn Neurol19771565568883769
- SalomãoSRBerezovskyAAndradeREBelfortRCarelliVSadunAAVisual electrophysiologic findings in patients from an extensive Brazilian family with Leber’s hereditary optic neuropathyDoc Ophthalmol200410814715515455797
- ZiccardiLSadunFDe NegriAMRetinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber’s hereditary optic neuropathyInvest Ophthalmol Vis Sci2013546893690124071953
- NewmanNJLeber’s hereditary optic neuropathy: new genetic considerationsArch Neurol1993505405488489411
- MashimaYOshitariKImamuraYMomoshimaSShigaHOguchiYOrbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber’s hereditary optic neuropathyJ Neurol Neurosurg Psychiatry1998641241279436742
- KermodeAGMoseleyIFKendallBEMillerDHMacManusDGMcDonaldWIMagnetic resonance imaging in Leber’s optic neuropathyJ Neurol Neurosurg Psychiatry1989526716742732742
- VaphiadesMSPhillipsPHTurbinREOptic nerve and chiasmal enhancement in Leber hereditary optic neuropathyJ Neuroophthalmol20032310410512616096
- SadunFDe NegriAMCarelliVOphthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathyAm J Ophthalmol200413727127714962416
- VenturaDFQuirosPCarelliVChromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathyInvest Ophthalmol Vis Sci2005464809481416303983
- SaviniGBarboniPValentinoMLRetinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber’s hereditary optic neuropathy mutationsOphthalmology200511212713115629832
- GuyJFeuerWJPorciattiVRetinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathyInvest Ophthalmol Vis Sci20145584184824398093
- KirkmanMAKorstenALeonhardtMQuality of life in patients with Leber hereditary optic neuropathyInvest Ophthalmol Vis Sci2009503112311519255150
- JohnsDRHeherKLMillerNRSmithKHLeber’s hereditary optic neuropathy: clinical manifestations of the 14484 mutationArch Ophthalmol19931114954988470982
- JohnsDRSmithKHMillerNRLeber’s hereditary optic neuropathy: clinical manifestations of the 3460 mutationArch Ophthalmol1992110157715811444915
- BarboniPSaviniGValentinoMLLeber’s hereditary optic neuropathy with childhood onsetInvest Ophthalmol Vis Sci2006475303530917122117
- Ramos CdoVBellusciCSaviniGAssociation of optic disc size with development and prognosis of Leber’s hereditary optic neuropathyInvest Ophthalmol Vis Sci2009501666167419098324
- DiMauroSSchonEMitochondrial respiratory-chain diseasesN Engl J Med20033482656266812826641
- SchapiraAHMitochondrial diseasesLancet20123791825183422482939
- McFarlandRTurnbullDMBatteries not included: diagnosis and management of mitochondrial diseaseJ Intern Med200926521022819192037
- ZevianiMDi DonatoSMitochondrial disordersBrain2004127Pt 102153217215358637
- KoeneSSmeitinkJMitochondrial medicine: entering the era of treatmentJ Intern Med200926519320919192036
- WallaceDMitochondrial diseases in man and mouseScience19992831482148810066162
- SprouleDMKaufmannPMitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndromeAnn N Y Acad Sci2008114213315818990125
- MargulisLGenetic and evolutionary consequences of symbiosisExp Parasitol197639277349816668
- FraserJABiousseVNewmanNJThe neuro-ophthalmology of mitochondrial diseaseSurv Ophthalmol20105529933420471050
- SutovskyPMorenoRDRamalho-SantosJDominkoTSimerlyCSchattenGUbiquitin tag for sperm mitochondriaNature2005200519981999
- JenuthJPetersonAShoubridgeETissue-specific selection for different mtDNA genotypes in heteroplasmic miceNat Genet19971693959140402
- ChinneryPFDiMauroSShanskeSRisk of developing a mitochondrial DNA deletion disorderLancet200436459259615313359
- MacmillanCKirkhamTFuKPedigree analysis of French Canadian families with T14484C Leber’s hereditary optic neuropathyNeurology1998504174229484365
- ValentinoMLBarboniPGhelliAThe ND1 gene of complex I is a mutational hot spot for Leber’s hereditary optic neuropathyAnn Neurol20045663164115505787
- ChinneryPFBrownDTAndrewsRMThe mitochondrial ND6 gene is a hot spot for mutations that cause Leber’s hereditary optic neuropathyBrain200112420921811133798
- ChinneryPAndrewsRTurnbullDHowellNLeber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?Am J Med Genet20019823524311169561
- Gómez-DuránAPacheu-GrauDLópez-GallardoEUnmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroupsHum Mol Genet2010193343335320566709
- Gómez-DuránAPacheu-GrauDMartínez-RomeroIOxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber’s hereditary optic neuropathyBiochim Biophys Acta201218221216122222561905
- HudsonGCarelliVSpruijtLClinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundAm J Hum Genet20078122823317668373
- JiYZhangA-MJiaXMitochondrial DNA haplogroups M7b1’2 and M8a affect clinical expression of Leber hereditary optic neuropathy in Chinese families with the m.11778G – A mutationAm J Hum Genet20088376076819026397
- GiordanoCIommariniLGiordanoLEfficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathyBrain2014137Pt 233535324369379
- BuXRotterJX chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosomeProc Natl Acad Sci U S A199188819882021896469
- HudsonGKeersSManPIdentification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderAm J Hum Genet2005771086109116380918
- ShankarSPFingertJHCarelliVEvidence for a novel x-linked modifier locus for Leber hereditary optic neuropathyOphthalmic Genet200829172418363168
- JiYJiaXLiSXiaoXGuoXZhangQEvaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in ChineseMol Vis2010809041642420300564
- GiordanoCMontopoliMPerliEOestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathyBrain2011134Pt 122023420943885
- KirkmanMAYu-Wai-ManPKorstenAGene-environment interactions in Leber hereditary optic neuropathyBrain2009132Pt 92317232619525327
- PottJWWongKHLeber’s hereditary optic neuropathy and vitamin B12 deficiencyGraefes Arch Clin Exp Ophthalmol20062441357135916523300
- SadunAWinPRoss-CisnerosFWalkerSCarelliVLeber’s hereditary optic neuropathy differentially affects smaller axons in the optic nerveTrans Am Ophthalmol Soc20009822323511190025
- AndrewsRMGriffithsPGJohnsonMATurnbullDMHistochemical localisation of mitochondrial enzyme activity in human optic nerve and retinaBr J Ophthalmol19998323123510396204
- BristowEGriffithsPAndrewsRJohnsonMTurnbullDThe distribution of mitochondrial activity in relation to optic nerve structureArch Ophthalmol200212079179612049585
- Yu Wai ManCYChinneryPFGriffithsPGOptic neuropathies – importance of spatial distribution of mitochondria as well as functionMed Hypotheses2005651038104216098682
- CarelliVRugoloMSgarbiGBioenergetics shapes cellular death pathways in Leber’s hereditary optic neuropathy: a model of mitochondrial neurodegenerationBiochim Biophys Acta2004165817217915282189
- LinCSSharpleyMSFanWMouse mtDNA mutant model of Leber hereditary optic neuropathyProc Natl Acad Sci U S A2012109200652007023129651
- CarelliVLa MorgiaCValentinoMLBarboniPRoss-CisnerosFNSadunAARetinal ganglion cell neurodegeneration in mitochondrial inherited disordersBiochim Biophys Acta2009178751852819268652
- GropmanAChenT-JPerngC-LVariable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutationAm J Med Genet2004124A37738214735585
- HowellNKubackaIMcCulloughDLeber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutationAm J Hum Genet1991489359422018041
- HardingASweeneyMMillerDOccurrence of a multiple sclerosis-like illness in women who have a Leber’s hereditary optic neuropathy mitochondrial DNA mutationBrain1992115Pt 49799891393514
- PfefferGBurkeAYu-Wai-ManPCompstonDAChinneryPFClinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutationsNeurology2013812073208124198293
- PalaceJMultiple sclerosis associated with Leber’s hereditary optic neuropathyJ Neurol Sci2009286242719800080
- StelmackJTangXRedaDRineSMancilRMassofROutcomes of the veterans affairs low vision intervention trial (LOVIT)Arch Ophthalmol200812660861718474769
- NewmanNJTreatment of hereditary optic neuropathiesNat Rev Neurol2012854555622945544
- PfefferGMajamaaKTurnbullDThorburnDChinneryPTreatment for mitochondrial disordersCochrane Database Syst Rev20124004426
- PfefferGHorvathRKlopstockTNew treatments for mitochondrial disease – no time to drop our standardsNat Rev Neurol2013947448123817350
- SaylorMMcLoonLKHarrisonARLeeMSExperimental and clinical evidence for brimonidine as an optic nerve and retinal neuroprotective agentArch Ophthalmol200912740240619365015
- NewmanNJBiousseVDavidRProphylaxis for second eye involvement in Leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine puriteAm J Ophthalmol200514040741516083844
- ThouinAGriffithsPGHudsonGChinneryPFYu-Wai-ManPRaised intraocular pressure as a potential risk factor for visual loss in Leber hereditary optic neuropathyPloS One2013863446
- GiorgioVPetronilliVGhelliAThe effects of idebenone on mitochondrial bioenergeticsBiochim Biophys Acta2012181736336922086148
- MordenteAMartoranaGMinottiGGiardinaBAntioxidant properties of 2,3-dimethoxy-5-methyl-6-(10-hydroxydecyl)-1, 4-benzoquinone (idebenone)Chem Res Toxicol199854639477226
- MashimaYHiidaYOguchiYRemission of Leber’s hereditary optic neuropathy with idebenoneLancet19923403683691353825
- KlopstockTYu-Wai-ManPDimitriadisKA randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathyBrain2011134Pt 92677268621788663
- KlopstockTMetzGYu-Wai-ManPPersistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathyBrain2013136Pt 2e23023388409
- CarelliVLa MorgiaCValentinoMLIdebenone treatment in Leber’s hereditary optic neuropathyBrain2011134Pt 9e18821810891
- RudolphGDimitriadisKBüchnerBEffects of idebenone on color vision in patients with Leber hereditary optic neuropathyJ Neuroophthalmol201333303623263355
- SadunAChicaniCRoss-CiscernosFEffect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathyArch Neurol20126933133822410442
- WenzTWilliamsSLBacmanSRMoraesCTEmerging therapeutic approaches to mitochondrial diseasesDev Disabil Res Rev20101621922920818736
- La MorgiaCCarbonelliMBarboniPSadunAACarelliVMedical management of hereditary optic neuropathiesFront Neurol2014514125132831
- WenzTDiazFSpiegelmanBMMoraesCTActivation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotypeCell Metab2008824925618762025
- GuyJNew therapies for optic neuropathies: development in experimental modelsCurr Opin Ophthalmol20001142142911141636
- DiMauroSMancusoMMitochondrial diseases: therapeutic approachesBiosci Rep20072712513717486439
- ManfrediGFuJOjaimiJRescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleusNat Genet20023039439911925565
- GuyJQiXPallottiFRescue of a mitochondrial deficiency causing Leber hereditary optic neuropathyAnn Neurol20025253454212402249
- EllouzeSAugustinSBouaitaAOptimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunctionAm J Hum Genet20088337338718771762
- GuyJQiXKoilkondaRDEfficiency and safety of AAV-mediated gene delivery of the human ND4 complex I subunit in the mouse visual systemInvest Ophthalmol Vis Sci2009504205421419387075
- Cwerman-ThibaultHAugustinSEllouzeSSahelJ-ACorral- DebrinskiMGene therapy for mitochondrial diseases: Leber hereditary optic neuropathy as the first candidate for a clinical trialC R Biol201433719320624702846
- Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber’s Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation2015 Available from: https://clinicaltrials.gov/ct2/show/NCT02161380Accessed February 21, 2015
- Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)2015 Available from: https://clinical-trials.gov/ct2/show/NCT01267422Accessed February 21, 2015
- Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients2015 Available from: https://clinicaltrials.gov/ct2/show/NCT02064569Accessed February 21, 2015
- FloreaniMNapoliEMartinuzziAAntioxidant defences in cybrids harboring mtDNA mutations associated with Leber’s hereditary optic neuropathyFEBS J20052721124113515720387
- QiXSunLHauswirthWWLewinASGuyJUse of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutationArch Ophthalmol200712526827217296905
- IyerSBergquistKYoungKGnaigerERaoRRBennettJPMitochondrial gene therapy improves respiration, biogenesis, and transcription in G11778A Leber’s hereditary optic neuropathy and T8993G Leigh’s syndrome cellsHum Gene Ther20122364765722390282
- YuHKoilkondaRChouTGene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber’s hereditary optic neuropathy in a mouse modelProc Natl Acad Sci U S A201210912381247
- YuHMehtaAWangGNext-generation sequencing of mitochondrial targeted AAV transfer of human ND4 in miceMol Vis2013191482149123869167
- MarchettiVKrohneTFriedlanderDFriedlanderMStemming vision loss with stem cellsJ Clin Investig20101203012302120811157
- Dahlmann-NoorAVijaySJayaramHLimbAKhawPTCurrent approaches and future prospects for stem cell rescue and regeneration of the retina and optic nerveCan J Ophthalmol20104533334120648090
- JohnsonTVBullNDHuntDPMarinaNTomarevSIMartinKRNeuroprotective effects of intravitreal mesenchymal stem cell transplantation in experimental glaucomaInvest Ophthalmol Vis Sci2010512051205919933193
- ConnickPKolappanMCrawleyCAutologous mesenchymal stem cells for the treatment of secondary progressive multiple sclerosis: an open-label phase 2a proof-of-concept studyLancet Neurol20121115015622236384