An internationally renowned clinician came to Mount Sinai nearly blind in one eye. The reality of his condition no doubt felt all too acute, too urgent, too why me? and yet also, why not me? After all, glaucoma is the second leading cause of blindness in the country. Showing no signs of its slow advances on the eyes before damaging them, it is sometimes called the “silent thief of sight,” making expert treatment essential for preventing its progression.
The patient’s diagnosis—normal tension glaucoma—proved difficult to pinpoint and difficult to treat. In the care of Dr. James Tsai, MD, President of the New York Eye and Ear Infirmary of Mount Sinai and Director of the newly established Center for Ophthalmic Artificial Intelligence and Human Health (COAIHH), however, the patient has kept his vision for over two decades. During this time, he continued his medical practice and even published a leading textbook, educating future generations of clinicians in a turn of events made possible through the distinctive care of the Mount Sinai ophthalmology team.
Our Defining Research and Clinical Programs
COAIHH brings together talented physician-scientists in ophthalmology with expertise in a multitude of research areas, each of which enhances our ability to make therapeutic decisions in real time across the spectrum of care. We have made phenomenal advancements in raising the standard of vision care at Mount Sinai and are pioneering new ophthalmic technologies that are expanding the boundaries of what ophthalmology has been known to be, into a discipline with relevance to all of human health.
Our innovative research is at the heart of what distinguishes the level of care we provide at the Mount Sinai Department of Ophthalmology and at the New York Eye and Ear Infirmary. At the same time, we are piloting clinical programs that extend this level of care to underserved communities. As follows are what have emerged as our most prominent research and clinical programs since the Center’s founding this year. Our hope is to continue to expand these novel programs and recruit a visionary director whose technological skills and clinical expertise will guide the Center’s translational research into the future.
"COAIHH is not just a center for ophthalmology or artificial intelligence; it is a center for human health."
Our Faculty
Co-directed by three of Mount Sinai’s finest ophthalmologists, COAIHH has a bright future ahead.
James Tsai, MD, Co-Director of COAIHH, President of the New York Eye & Ear Infirmary of Mount Sinai and Professor and System Chair of Ophthalmology
Dr. Tsai serves as the Founding Director of the Center for the Ophthalmic Artificial Intelligence and Human Health at the Icahn School of Medicine at Mount Sinai. He also serves as President of the International Joint Commission on Allied Health Personnel in Ophthalmology (IJCAHPO), Trustee-at-Large of the Association of University Professors of Ophthalmology (AUPO), and Chair of the Ophthalmology Section of the New York Academy of Medicine (NYAM). In addition, he was appointed to the Administrative Board of the Council of Teaching Hospitals and Health Systems (COTH) of the Association of American Medical Colleges (AAMC). Dr. Tsai is a fellow of the American Academy of Ophthalmology and the American College of Surgeons. He is an elected member of the American Ophthalmological Society, the American Eye Study Club, the New York Ophthalmological Society, and the Manhattan Ophthalmological Society.
Louis Pasquale, MD, Co-Director of COAIHH, Site Chair of the Department of Ophthalmology, Vice Chair of Translational Ophthalmology Research for the Mount Sinai Healthcare System, and Professor of Ophthalmology
Dr. Pasquale is a member of the PLOS One, Journal of Glaucoma, Ophthalmology Glaucoma, Asia-Pacific Journal of Ophthalmology, and American Journal of Ophthalmology editorial boards. He currently serves as Glaucoma Trustee for The Association for Research in Vision and Ophthalmology (ARVO) and is a member of the National Institute of Health’s National Advisory Eye Council. Dr. Pasquale is an NIH Principal Investigator with continuous support since 2006. His research, which leverages the rich resources available in the Nurses Health Study, Health Professional Follow-up Study, and the Women’s Genome Health Study, focuses on the discovery of primary prevention strategies in the open-angle glaucomas.
Alon Harris, MS, PhD, FARVO, Co-Director of COAIHH, Vice Chair of International Research and Academic Affairs, Director of the Ophthalmic Vascular Diagnostic and Research Program at Mount Sinai Hospital, and Professor of Ophthalmology
An internationally recognized clinical research scientist and Fellow of ARVO, Dr. Harris focuses on glaucoma risk factor assessment, monitoring techniques for structural and functional glaucoma progression, ocular perfusion assessment, mathematical modeling and artificial intelligence, branded and generic glaucoma medications, novel imaging methodologies, and population-based studies. He has made significant contributions in the fields of diabetic retinopathy, age-related macular degeneration, non-arteritic ischemic optic neuropathy, and brain physiology and has published over 395 peer-reviewed journal articles, 23 books, and 70 book chapters. In addition to his academic pursuits, Dr. Harris is the founder of AdOM, an ophthalmic medical imaging company for dry eye, and serves on the board of several life sciences and startup companies.
"The retina has long been considered a part of the central nervous system."
PAPERS PUBLISHED BY OUR FACULTY
A window to the brain, the retina has much to tell us not only about the health of the eyes but about cardiovascular and cognitive health as well. Leveraging our cross-cutting capabilities in AI, genomics, and ocular imaging, our researchers are revealing the genetic underpinnings of glaucoma, uncovering genetic linkages to immunological disorders, and identifying biomarkers for assessing the vascular health of the brain.
Towards modifying the genetic predisposition for glaucoma
An overview of the contribution and interaction of genetic and environmental factors: Large-scale genomic studies have led us to identify more of the many genes that can contribute to the development of different types of glaucoma. Epidemiological studies have also shown that certain environmental factors may increase risk for glaucoma. A person’s risk for glaucoma, however, is not simply the sum of their genetic and environmental risk factors; a more precise risk score and the reasons underpinning it can be derived from the interactions between a person’s genes and their environment. An important next step for the field is investigating these interactions—for example, what environmental conditions “turn on” certain genes that increase a person’s risk of glaucoma. This knowledge will empower doctors to proactively guide at-risk patients toward lifestyle changes that could prevent or delay the onset of disease.
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
Current therapies for glaucoma rely solely on reducing intra-ocular pressure, a primary symptom of glaucoma, and do not mitigate the neurodegeneration associated with the disease. To expand our understanding of places in the genome where genetic variations may lead to glaucoma, and to search for novel drug targets, researchers conducted a large-scale study of the genomes of more than 600,000 individuals and then leveraged the 23andMe database to expand this sample size to nearly 3 million. They identified many potential “genetic loci” that may have neuroprotective effects and could serve as drug targets. The researchers also discovered immune disorders genetically correlated with glaucoma, including multiple sclerosis and lupus, implicating the immune system in the degeneration of the optic nerve seen in glaucoma and providing new directions for glaucoma research.
Retinal imaging demonstrates reduced capillary density in clinically unimpaired APOE ε4 gene carriers
APOE4 is a genetic variant of the APOE gene known to be a risk factor for Alzheimer’s disease (although many carriers do not develop Alzheimer’s), and the presence of this variant has been shown in mice to lower the density of brain capillaries, or small blood vessels. Researchers wondered whether peering into retinal capillaries via retinal imaging could provide a proxy for the health of brain capillaries, as these cannot be accessibly imaged directly. Using retinal optical coherence tomography angiography (OCTA), a noninvasive imaging technology that allows scientists to measure blood flow in the eye, they arrived at the same result in humans as in mouse models, finding lower capillary density in APOE4 carriers. For individuals who have not had genetic testing for APOE4, an image of the retina could serve to indicate risk status and monitor for Alzheimer’s.
Glossary Definitions
Adaptive optics: This imaging technology removes diffraction of light so the waves of light that come back through the camera aperture create a clear image of the retina and reveal fine details—like a red blood cell moving through a retinal blood vessel.
Biomarker: Any biological molecule whose presence indicates that a particular biological process is occurring, often related to the pathology of a condition.
Vascular density: This important measure tells us how much blood is flowing through micro-capillaries in the eye. Decreased retinal vascular density can be a sign of cognitive impairment.
"Through our visionary research for the benefit of human health, we are working toward a future in which a retinal image will be considered a vital sign—similar to height, weight, or blood pressure—embedded with valuable indicators of a patient's health."
An Opportunity to Advance Vision Care and Population Health
The opportunity before us is one of immeasurable promise. At present, artificial intelligence is assuming daily new applications in health care, from natural language processing to identify patients in need of ophthalmic and medical care to the diagnosis of ocular, cardiovascular, neurological, and other disorders via machine learning using ocular biometric data. Philanthropy will allow the newly created Center for Ophthalmic Artificial Intelligence and Human Health to advance understanding in basic and translational sciences as well as artificial intelligence, all while bringing the latest imaging tools and technologies into the community, acting on both immediacy and imminence.