In addition to the most prominent symptoms — pediatric-
for families with inherited ophthalmic conditions. “Understand-
onset glaucoma and a psoriasis-like skin rash, other symptoms
ing all the factors that drive this syndrome may help us prevent
include arthritis, spontaneous tendon ruptures, and aortic,
some of its more severe consequences, and eventually develop
skeletal and dental calcifications. The team described how the
effective treatments.”
DDX58 variant triggers an inflammatory cascade in the body responsible for many of the symptoms. The tendency to develop calcifications explained some of
The Gibsons came to Kellogg for sight-saving care. In the process, a family mystery was finally solved. “If it wasn’t for the Kellogg Eye Center, two of our kids
the puzzling symptoms experienced by Stan, Rachel and Adam
would be blind,” says Eryn Gibson. “Because of the commu-
Gibson. All three endured dental problems caused by retaining
nication between these doctors, this condition is now better
baby teeth long after they are normally lost. Also likely due to
understood. Their curiosity led to answers, and helped us feel
a calcium buildup, Adam suffered a carotid artery rupture at
like we were finally being heard and cared about. After genera-
age 21.
tions of unanswered questions and enormous health challenges,
“This work highlights how a genetic diagnosis can have a big impact on clinical practice and patient outcomes,” says
someone took this seriously and had access to the resources to find answers. We are grateful beyond words.”
Dr. Prasov, who now leads a multidisciplinary clinic to care
Leading on the National Stage Nurturing leaders is in Kellogg’s DNA. In addition to providing world-class patient care and pursuing new research frontiers, we encourage and prepare our faculty members to actively participate in national ophthalmology organizations. The following list is not meant to be comprehensive, but rather a snapshot of Kellogg faculty involvement. Kellogg faculty and alumni contribute to the boards and committees of the most influential associations in ophthalmology, working with colleagues to help keep the field moving forward. Kari Branham M.S., C.G.C.
Paul Lee, M.D., J.D.
President, NAEVR/AEVR President, AUPO Chair, AAO Board Task force on Disparities in Visual Health Shahzad Mian, M.D.
Board of Directors, Eversight Eye Bank Senior Medical Director, Eversight Eye Bank Board of Directors, Eye Bank Association of America Board of Directors, Cornea Society Vice Chair, Medical Advisory Board, Eye Bank Association of America Christine C. Nelson, M.D.
Foundation Fighting Blindness Clinical Consortium, Genetics Review Committee, Chair National Society of Genetic Counselors Ophthalmology and Hearing Loss Special Interest Group, Co-Chair
Board of Directors, World Association of Eye Hospitals Trustee, American Society of Ophthalmic Plastic and Reconstructive Surgery Foundation
Monte Del Monte, M.D.
Board of Directors, American Glaucoma Society
Past-President, Costenbader Pediatric Ophthalmology Society Joshua Ehrlich, M.D., M.P.H.
Chair, AGS CARES Co-Chair, Advisory Board, Center for Vision and Population Health at Prevent Blindness Lancet Global Health Commission on Global Eye Health
Paula Anne Newman-Casey, M.D., M.S. Ariane Kaplan, M.D.
AUPO Directors of Medical Student Education Council Joshua Stein, M.D., M.S
Board of Directors of AGS; Chair of patient care committee Maria Woodward, M.D., M.S.
Board of Directors, Pan-American Ophthalmological Foundation
Council Leadership, Subspecialty/Specialized Section, Section Nominating Committee, American Academy of Ophthalmology Board of Directors, Cornea Society Dermatologic and Ophthalmic Drugs Advisory Committee, U.S. Food and Drug Administration
Mark Johnson, M.D.
David Zacks, M.D., Ph.D.
Thomas Gardner, M.D., M.S.
National Advisory Eye Council of the National Eye Institute K. Thiran Jayasundera, M.D., M.S., F.A.C.S.
President, The Macula Society Chair, AAO Retina Subspecialty Day
Secretary, The Retina Society
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