International Foundation for Optic Nerve Disease

1. IFOND sponsored international field investigation of a 300 member pedigree with LHON in Brazil. Jerome Sherman, Alfredo Sadun, Ivan Bodis-Wollner. American Academy of Optometry. 2002. Scientific Program Abstract

2. 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

3. 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

4. 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

5. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R, Moraes M, Passos A, Belfort R, da Rosa AB, Quiros P, Sadun AA. Am J Ophthalmol. 2004 Feb;137(2):271-7. doi: 10.1016/j.ajo.2003.08.010. Erratum in: Am J Ophthalmol. 2004 Apr;137(4):following 793. https://doi.org/10.1016/j.ajo.2003.08.010 PMID: 14962416

6. 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

7. 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

8. 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

9. 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

10. Psychophysical analysis of contrast processing segregated into magnocellular and parvocellular systems in asymptomatic carriers of 11778 Leber’s hereditary optic neuropathy Gualtieri M, Bandeira M, Hamer RD, Costa MF, Oliveira AG, Moura AL, Sadun F, De Negri AM, Berezovsky A, Salomão SR, Carelli V, Sadun AA, Ventura DF. Visual Neuroscience. 25, 1–6. 2008. doi: 10.1017/s0952523808080462 Erratum in: Vis Neurosci. 2008 Sep-Dec;25(5-6):711. https://doi.org/10.1017/s0952523808080462 PMID: 18598420

11. 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

12. Guy J, Shaw G, Ross-Cisneros FN, Quiros P, Salomao SR, Berezovsky A, Carelli V, Feuer WJ, Sadun AA. Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). Mol Vis. 2008;14:2443-50. Epub 2008 Dec 22. PMID: 19104679; PMCID: PMC2605731.

13. 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

14. 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

15. 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

16. Yee KM, Ross-Cisneros FN, Lee JG, Da Rosa AB, Salomao SR, Berezovsky A, Belfort R Jr, Chicani F, Moraes-Filho M, Sebag J, Carelli V, Sadun AA. Neuron-specific enolase is elevated in asymptomatic carriers of Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2012 Sep 21;53(10):6389-92. doi: 10.1167/iovs.12-9677. PMID: 22893673; PMCID: PMC3450916.

17. Rizzo G, Tozer KR, Tonon C, Manners D, Testa C, Malucelli E, Valentino ML, La Morgia C, Barboni P, Randhawa RS, Ross-Cisneros FN, Sadun AA, Carelli V, Lodi R. Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. PLoS One. 2012;7(11):e50230. doi: 10.1371/journal.pone.0050230. Epub 2012 Nov 27. PMID:23209682 ; PMCID: PMC3507727.

18. Pan BX, Ross-Cisneros FN, Carelli V, Rue KS, Salomao SR, Moraes-Filho MN, Moraes MN, Berezovsky A, Belfort R Jr, Sadun AA. Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2012 Nov 9;53(12):7608-17. doi: 10.1167/iovs.12-10452. PMID:23060142 ; PMCID: PMC3495603.

19. Lin CS, Sharpley MS, Fan W, Waymire KG, Sadun AA, Carelli V, Ross-Cisneros FN, Baciu P, Sung E, McManus MJ, Pan BX, Gil DW, Macgregor GR, Wallace DC. Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70. doi: 10.1073/pnas.1217113109. Epub 2012 Nov 5. PMID: 23129651; PMCID: PMC3523873.

20. 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

21. 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

22. Moura AL, Nagy BV, La Morgia C, Barboni P, Oliveira AG, Salomão SR, Berezovsky A, de Moraes-Filho MN, Chicani CF, Belfort R Jr, Carelli V, Sadun AA, Hood DC, Ventura DF. The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells. Invest Ophthalmol Vis Sci. 2013 Jul 2;54(7):4471-7. doi: 10.1167/iovs.12-11137. PMID: 23737476; PMCID: PMC4322722.

23. Ross-Cisneros FN, Pan BX, Silva RA, Miller NR, Albini TA, Tranebjaerg L, Rendtorff ND, Lodahl M, Moraes-Filho MN, Moraes MN, Salomao SR, Berezovsky A, Belfort R Jr, Carelli V, Sadun AA. Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss. Mitochondrion. 2013 Nov;13(6):841-5. doi: 10.1016/j.mito.2013.05.013. Epub 2013 Jun 6. PMID: 23748048.

24. 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

25. 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

26. 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

27. 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

28. 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

29. 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

30. 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

31. 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

32. Garcia GA, Khoshnevis M, Gale J, Frousiakis SE, Hwang TJ, Poincenot L, Karanjia R, Baron D, Sadun AA. Profound vision loss impairs psychological well-being in young and middle-aged individuals. Clin Ophthalmol. 2017 Feb 22;11:417-427. doi: 10.2147/OPTH.S113414. PMID: 28260855 ; PMCID: PMC5328297.

33. 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. Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series. Ophthalmology. 2017 Jun;124(6):843-850. doi: 10.1016/j.ophtha.2017.01.002. Epub 2017 Feb 10. PMID: 28196731.

34. 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

35. 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

36. 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

37. 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

38. 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

39. Berezovsky, A., Karanjia, R., Fernandes, A.G. et al. Photopic negative response using a handheld mini-ganzfeld stimulator in healthy adults: normative values, intra- and inter-session variability. Doc Ophthalmol (2020). https://doi.org/10.1007/s10633-020-09784-x PMID: 32681419

40. 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

41. Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy Alberto Danese , Simone Patergnani , Alessandra Maresca, Camille Peron, Andrea Raimondi, Leonardo Caporali, Saverio Marchi, Chiara La Morgia, Valentina Del Dotto, Claudia Zanna, Angelo Iannielli, Alice Segnali, Ivano Di Meo, Andrea Cavaliere, Magdalena Lebiedzinska-Arciszewska, Mariusz R. Wieckowski, Andrea Martinuzzi, Milton N. Moraes-Filho, Solange R. Salomao, Adriana Berezovsky, Rubens Belfort Jr., Christopher Buser, Fred N. Ross-Cisneros, Alfredo A. Sadun, Carlo Tacchetti, Vania Broccoli, Carlotta Giorgi, Valeria Tiranti, Valerio Carelli, Paolo Pinton Cell Reports [Open access] Volume 40, ISSUE 3, 111124, July 19, 2022 DOI:https://doi.org/10.1016/j.celrep.2022.111124 PMID: 35858578

42. Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy Yu-Wai-Man P, Newman NJ, Biousse V, et al. JAMA Ophthalmol. Published online December 19, 2024. doi:10.1001/jamaophthalmol.2024.5375

    
    

    Other papers from trips to the the Brazil pedigree:

43. 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

44. 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

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