Alfredo A. Sadun, MD, PhD

I have published about 380 peer-reviewed articles, many of which have been in non-ophthalmology high impact factor journals such as New England Journal of Medicine, Nature, Brain and PNAS.  The significance of my contributions is best appreciated by noting that I used both my MD and PhD training by going back and forth from bedside to bench and back to bedside with great success.  I have led pioneering efforts to help create the new science of mitochondrial neuro-ophthalmology.  This has changed the way many optic neuropathies are now treated.  The Cuban epidemic of optic and peripheral neuropathy was successfully managed through the administration of folic acid.  Patients with antibiotic-associated optic neuropathies, can avoid going blind through better management of dosing.  Patients with LHON can be treated in a limited way, with quinones.  Mitochondria probably play a role in several systemic and neurological diseases such as Parkinson’s and Alzheimer’s.  We have demonstrated the value of using the human optic nerve as a directly observable system for quantifying the effects of neurobiological effects and the treatment of brain pathologies.

Further basic science research in this area was made possible with the collaboration of Valerio Carelli, MD, PhD using a cybrid system of cell culture.  With this system it was possible for us to ascertain that the major consequence of the mitochondrial dysfunction in all three LHON mtDNA mutations was not deficiencies in ATP production, but rather great increases of reactive oxygen species (ROS).    I led a team of about 36 clinicians and scientists who went to rural Brazil for the annual study of a newly discovered giant pedigree of LHON.  These studies led to a number of new tests for LHON, to the knowledge that even LHON carriers had ophthalmological signs and to the characterization of the natural history from normal carrier, through subclinical carrier, to blindness from becoming affected.  Our group was also the first to establish the role of environmental factors, such as heavy drinking and smoking, to trigger LHON conversion.

Sadun AA, Martone JF, Reyes L, Roman G, Caballero B: Epidemic of Optic Neuropathy in Cuba. JAMA 271(9):663-4, 1994.

Smith RE and Sadun AA: Clearing the Cornea and Nerve Growth Factor.  N Engl J Med, 338 (17): 1222-1223, 1998.

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):20065-702012.

Zaninello M, Palikaras K, Naon D, Iwata K, Herkenne S, Quintana-Cabrera R, Semenzato M, Grespi F, Ross-Cisneros FN, Carelli V, Sadun AA, Tavernarakis N, Scorrano L. Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy. Nature Commun. 2020 Aug 12;11(1):4029. doi: 10.1038/s41467-020-17821-1.

1993  Honor Award, American Academy of Ophthalmology (AAO)
1999  Lighthouse International Pizart Award for Vision Research
2001  B. Straatsma Award by AAO and AUPO for Residency Education (Inaugural)
2002  Secretariat Honor Awards AAO
2004  Senior Honor Award, AAO
2009  Association for Research in Vision and Ophthalmology (ARVO) Fellow (Silver Medal)
2012  W. Hoyt Award by AAO and NANOS for Neuro-ophthalmology
2014  Heed Award at AAO for Excellence in Academic Ophthalmology
2016  Purpura Award by A. Einstein COM as Lifetime Achievement in Medical Science
2017  Life Achievement Award, AAO
2020  Secretariat Honor Award, AAO
2020  Gold Medal Fellow, ARVO
2021  Editor of Scope for SO at AAO
2023  Ranked #7297 in United States by Research.com among Best Scientists for 2023