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International Foundation for Optic Nerve Disease

 
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Papers IFOND helped sponsor:

IFOND proudly takes credit for its part in the research of optic nerve disease. IFOND soon after its inception helped open a vital liaison between a very large Leber Hereditary Optic Neuropathy [LHON] pedigree in Brazil and the best world class neuro ophthalmologic researchers in Brazil and around the world. This resulted in significant breakthroughs in the understanding of the clinical course of the mitochondrial genetic disease, LHON. The research found risk factors for its expression and pointed to prevention and potential treatment paths. Below find links to some published peer reviewed papers in chronological order acknowledging IFOND's help. This research helped stimulate a cascade of broad research on mitochondrial and optic nerve disease.

A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. Alfredo A Sadun, Valerio Carelli, Solange R Salomao, Adriana Berezovsky, Peter Quiros, Federico Sadun, Anna-Maria DeNegri, Rafael Andrade, Stan Schein, and Rubens Belfort. Trans Am Ophthalmol Soc. 2002; 100: 169–179. PMCID: PMC1358960

Extensive Investigation of a Large Brazilian Pedigree of 11778/Haplogroup J Leber Hereditary Optic Neuropathy. Alfredo A. Sadun, MD, PhD, Valerio Carelli, MD, PhD, Solange R. Salomao, PhD, Adriana Berezovsky, PhD, Peter A. Quiros, MD, Federico Sadun, MD, Anna-Maria de Negri, MD, Rafael Andrade, MD, Milton Moraes, MD, Angelo Passos, MD, Patrícia Kjaer, MS, Josenilson Pereira, COMT, Maria Lucia Valentino, MD, Stan Schein, MD, PhD, and Rubens Belfort, MD, PhD. Am J Ophthalmol 2003;136:231–238. 2003. doi:10.1016/S0002-9394(03)00099-0 https://doi.org/10.1016/S0002-9394(03)00099-0 PMID: 12888043

Mitochondrial dysfunction as a cause of optic neuropathies Valerio Carelli, Fred N. Ross-Cisneros, Alfredo A. Sadun. Progress in Retinal and Eye Research 23 (2004) 53–89. doi:10.1016/j.preteyeres.2003.10.003 https://doi.org/10.1016/j.preteyeres.2003.10.003 PMID: 14766317

Ophthalmologic Findings in a Large Pedigree of 11778/Haplogroup J Leber Hereditary Optic Neuropathy FEDERICO SADUN, MD, ANNA MARIA DE NEGRI, MD, VALERIO CARELLI, MD, SOLANGE R. SALOMAO, P H D, ADRIANA BEREZOVSKY, P H D, RAFAEL ANDRADE, MD, MILTON MORAES, MD, ANGELO PASSOS, MD, RUBENS BELFORT, MD, P H D, ARLON BASTOS DA ROSA, BS, PETER QUIROS, MD, AND ALFREDO A. SADUN, MD, P H D. Am J Ophthalmol 2004;137:271–277. 2004. doi:10.1016/j.ajo.2003.08.010 https://doi.org/10.1016/j.ajo.2003.08.010 PMID: 14962416

Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber’s hereditary optic neuropathy. Solange R. Salomão, Adriana Berezovsky, Rafael E. Andrade, Rubens Belfort Jr., Valerio Carelli & Alfredo A. Sadun. Documenta Ophthalmologia 108: 147–155, 2004. doi: 10.1023/b:doop.0000036829.37053.31 https://doi.org/10.1023/b:doop.0000036829.37053.31 PMID: 15455797

Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy. Ventura DF, Quiros P, Carelli V, Salomão SR, Gualtieri M, Oliveira AG, Costa MF, Berezovsky A, Sadun F, de Negri AM, Sadun AA. Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4809-14. doi: 10.1167/iovs.05-0455. https://doi.org/10.1167/iovs.05-0455 PMID: 16303983 16303983

Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees Valerio Carelli, Alessandro Achilli, Maria Lucia Valentino, Chiara Rengo, Ornella Semino, Maria Pala, Anna Olivieri, Marina Mattiazzi, Francesco Pallotti, Franco Carrara, Massimo Zeviani, Vincenzo Leuzzi, Carla Carducci, Giorgio Valle, Barbara Simionati, Luana Mendieta, Solange Salomao, Rubens Belfort Jr., Alfredo A. Sadun, and Antonio Torroni. Am. J. Hum. Genet. 2006;78:564–574. 2006. doi: 10.1086/501236 https://doi.org/10.1086/501236 PMID: 16532388

Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy. Ventura DF, Gualtieri M, Oliveira AG, Costa MF, Quiros P, Sadun F, de Negri AM, Salomão SR, Berezovsky A, Sherman J, Sadun AA, Carelli V. Invest Ophthalmol Vis Sci. 2007 May;48(5):2362-70. doi: 10.1167/iovs.06-0331. https://doi.org/10.1167/iovs.06-0331 PMID: 17460303

Psychophysical analysis of contrast processing segregated into magnocellular and parvocellular systems in asymptomatic carriers of 11778 Leber’s hereditary optic neuropathy M. GUALTIERI, M. BANDEIRA, R.D. HAMER, M.E. COSTA, A.G.F. OLIVEIRA, A.L.A. MOURA, F. SADUN, A.M. DE NEGRI, A. BEREZOVSKY, S.R. SALOMÃO, V. CARELLI, A.A. SADUN, and D.F. VENTURA. Visual Neuroscience. 25, 1–6. 2008. doi: 10.1017/s0952523808080462 https://doi.org/10.1017/s0952523808080462 PMID: 18598420

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy Suma P. Shankar, John H. Fingert, Valerio Carelli, Maria L. Valentino, Terri M. King, Stephen P. Daiger, Solange R. Salomao, Adriana Berezovsky, Rubens Belfort Jr., Terri A. Braun, Val C. Sheffield, Alfredo A. Sadun & Edwin M. Stone. Ophthalmic Genetics, 29:1, 17-24. 2008. DOI: 10.1080/13816810701867607 https://doi.org/10.1080/13816810701867607 PMID: 18363168

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Fred N. Ross-Cisneros, Alfredo A. Sadun. Biochimica et Biophysica Acta 1787 518–528. 2009. doi:10.1016/j.bbabio.2009.02.024 https://doi.org/10.1016/j.bbabio.2009.02.024 PMID: 19268652

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies Chiara La Morgia, Fred N. Ross-Cisneros, Alfredo A. Sadun, Jens Hannibal, Alessandra Munarini, Vilma Mantovani, Piero Barboni, Gaetano Cantalupo, Kevin R. Tozer, Elisa Sancisi, Solange R. Salomao, Milton N. Moraes, Milton N. Moraes-Filho, Steffen Heegaard, Dan Milea, Poul Kjer, Pasquale Montagna and Valerio Carelli. Brain 2010: 133; 2426–2438. doi:10.1093/brain/awq155 https://doi.org/10.1093/brain/awq155 PMID: 20659957

Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber’s hereditary optic neuropathy. Paula Yuri Sacai, Solange Rios Salomão, Valerio Carelli Josenilson Martins Pereira, Rubens Belfort Jr.,Alfredo Arrigo Sadun, Adriana Berezovsky. Doc Ophthalmol (2010) 121:147–154. doi:10.1007/s10633-010-9241-2 https://doi.org/10.1007/s10633-010-9241-2 PMID: 20676915

Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options. Carelli V, La Morgia C, Sadun AA. Curr Opin Neurol. 2013 Feb;26(1):52-8. doi: 10.1097/WCO.0b013e32835c5f0b. https://doi.org/10.1097/WCO.0b013e32835c5f0b PMID: 23302804

Mitochondrial optic neuropathies: our travels from bench to bedside and back again. Alfredo A Sadun MD PhD Chiara La Morgia MD PhD Valerio Carelli MD PhD Clinical and Experimental Ophthalmology. Royal Australian and New Zealand College of Ophthalmologists. First published: 21 February 2013. https://doi.org/10.1111/ceo.12086 https://doi.org/10.1111/ceo.12086

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V.Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. PMID: 24369379 https://doi.org/10.1093/brain/awt343 PMID: 24369379

Genetic Basis of Mitochondrial Optic Neuropathies. A Maresca, L Caporali, D Strobbe, C Zanna, D Malavolta, C La Morgia, M L Valentino, V Carelli. Curr Mol Med. 2014;14(8):985-992. doi: 10.2174/1566524014666141010132627. PMID: 25323873 https://doi.org/10.2174/1566524014666141010132627PMID: 25323873

Medical Management of Hereditary Optic Neuropathies La Morgia C, Carbonelli M, Barboni P, Sadun AA, Carelli V. Front Neurol. 2014 Jul 31;5:141. doi: 10.3389/fneur.2014.00141. eCollection 2014. https://doi.org/10.3389/fneur.2014.00141 PMID: 25132831

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems Carelli V, Chan DC. Neuron. 2014 Dec 17;84(6):1126-42. doi: 10.1016/j.neuron.2014.11.022. https://doi.org/10.1016/j.neuron.2014.11.022 PMID: 25521375 25521375

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways L Giordano, S Deceglie, P d'Adamo, M L Valentino, C La Morgia, F Fracasso, M Roberti, M Cappellari, G Petrosillo, S Ciaravolo, D Parente, C Giordano, A Maresca, L Iommarini, V Del Dotto, A M Ghelli, S R Salomao, A Berezovsky, R Belfort, Jr, A A Sadun, V Carelli, P Loguercio Polosa, and P Cantatore. Cell Death Dis. 2015 Dec; 6(12): e2021. doi: 10.1038/cddis.2015.364 https://doi.org/10.1038/cddis.2015.364 PMCID: PMC4720897 PMC4720897

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion Carelli V, d'Adamo P, Valentino ML, La Morgia C, Ross-Cisneros FN, Caporali L, Maresca A, Loguercio Polosa P, Barboni P, De Negri A, Sadun F, Karanjia R, Salomao SR, Berezovsky A, Chicani F, Moraes M, Moraes Filho M, Belfort R Jr, Sadun AA. Brain. 2016 Mar;139(Pt 3):e17. doi: 10.1093/brain/awv339. Epub 2015 Dec 10. https://doi.org/10.1093/brain/awv339 PMID: 26657166 26657166

A neurodegenerative perspective on mitochondrial optic neuropathies. Yu-Wai-Man P, Votruba M, Burté F, La Morgia C, Barboni P, Carelli V. Acta Neuropathol. 2016 Dec;132(6):789-806. doi: 10.1007/s00401-016-1625-2. Epub 2016 Sep 30. https://doi.org/10.1007/s00401-016-1625-2 PMID: 27696015

Melanopsin Retinal Ganglion Cell Loss in Alzheimer Disease La Morgia C, Ross-Cisneros FN, Koronyo Y, Hannibal J, Gallassi R, Cantalupo G, Sambati L, Pan BX, Tozer KR, Barboni P, Provini F, Avanzini P, Carbonelli M, Pelosi A, Chui H, Liguori R, Baruzzi A, Koronyo-Hamaoui M, Sadun AA, Carelli V. Ann Neurol. 2016 Jan;79(1):90-109. doi: 10.1002/ana.24548. Epub 2015 Dec 18. https://doi.org/10.1002/ana.24548 PMID: 26505992

Optic neuropathies: the tip of the neurodegeneration iceberg Carelli V, La Morgia C, Ross-Cisneros FN, Sadun AA. Hum Mol Genet. 2017 Oct 1;26(R2):R139-R150. doi: 10.1093/hmg/ddx273. https://doi.org/10.1093/hmg/ddx273 PMID: 28977448

Incomplete penetrance in mitochondrial optic neuropathies Leonardo Caporali, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto , Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli. Mitochondrion. 2017 Sep;36:130-137. doi: 10.1016/j.mito.2017.07.004. https://doi.org/10.1016/j.mito.2017.07.004 PMID: 28716668

The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy Rustum Karanjia; Adriana Berezovsky; Paula Yuri Sacai; Nivea Nunes Cavascan; Henry Yuheng Liu; Samir Nazarali; Milton Nunes Moraes-Filho; Kirsten Anderson; Jeffrey Show Tran; Sung EunSong Watanabe; Milton Nunes Moraes; Federico Sadun; Anna Maria DeNegri; Piero Barboni; Carolina do Val Ferreira Ramos; Chiara La Morgia; Valerio Carelli; Rubens Belfort, Jr; Stuart Glenn Coupland; Solange Rios Salomao; Alfredo A. Sadun. Investigative Ophthalmology & Visual Science October 2017, Vol.58, BIO300-BIO306. doi:10.1167/iovs.17-21773 https://doi.org/10.1167/iovs.17-21773 ARVO article: 2659542

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years. Valerio Carelli, Chiara La Morgia. Essays Biochem. 2018 Jul 20;62(3):235-254. doi: 10.1042/EBC20170097. https://doi.org/10.1042/EBC20170097 PMID: 30030360

Mitochondrial Diseases in Adults La Morgia C, Maresca A, Caporali L, Valentino ML, Carelli V. J Intern Med. 2020 Jun;287(6):592-608. doi: 10.1111/joim.13064. https://doi.org/10.1111/joim.13064 PMID: 32463135

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy Marta Zaninello, Konstantinos Palikaras, Deborah Naon, Keiko Iwata, Stephanie Herkenne, Ruben Quintana-Cabrera, Martina Semenzato, Francesca Grespi, Fred N Ross-Cisneros, Valerio Carelli, Alfredo A Sadun, Nektarios Tavernarakis, Luca Scorrano. Nat Commun. 2020 Aug 12;11(1):4029. doi: 10.1038/s41467-020-17821-1. https://doi.org/10.1038/s41467-020-17821-1 PMID: 32788597


Other papers from trips to the the Brazil pedigree:

Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study Alfredo A. Sadun, MD, PhD, Solange R. Salomao, PhD, Adriana Berezovsky, PhD, Federico Sadun, MD, Anna Maria DeNegri, MD, Peter A. Quiros, MD, Filipe Chicani, MD, Dora Ventura, MD, Piero Barboni, MD, Jerome Sherman, OD, Erich Sutter, PhD, Rubens Belfort, Jr, MD, PhD, and Valerio Carelli, MD PhD. Trans Am Ophthalmol Soc. 2006 Dec; 104: 51–61. PMCID: PMC1809912 PMID: 17471325 PMC1809912

Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers Piero Barboni Giacomo Savini, William J. Feuer, Donald L. Budenz, Michele Carbonelli, Filipe Chicani, Carolina Do V.F. Ramos, Solange R. Salomao, Annamaria De Negri, Vincenzo Parisi, Valerio Carelli, Alfredo A. Sadun. Eur J Ophthalmol(2012;:6 ) 985-991 Epub 2012 May doi: 10.5301/ejo.5000154 https://doi.org/10.5301/ejo.5000154 PMID: 22562299

Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series. Hwang TJ, Karanjia R, Moraes-Filho MN, Gale J, Tran JS, Chu ER, Salomao SR, Berezovsky A, Belfort R Jr, Moraes MN, Sadun F, DeNegri AM, La Morgia C, Barboni P, Ramos CDVF, Chicani CF, Quiros PA, Carelli V, Sadun AA. Ophthalmology. 2017 Jun;124(6):843-850. doi: 10.1016/j.ophtha.2017.01.002. Epub 2017 Feb 10. https://doi.org/10.1016/j.ophtha.2017.01.002 PMID: 28196731


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IFOND is an extremely lean, all volunteer 501(c)(3) tax status registered nonprofit. Our process minimizes costs and maximizes funding for researchers' direct, non administrative expenses. All donations are tax deductible in the United States of America. Our recent tax returns are here or also here. Our scientific board includes many of the prominent world leading published researchers in optic neuropathies. If this big bang for your buck model appeals to you, please donate. If you are a researcher in optic neuropathy, we welcome your funding application.

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