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Invited Commentary
December 27, 2018

Moving From Syndromic Description to Etiologic Diagnosis for Uveitis

Author Affiliations
  • 1Department of Ophthalmology, University of Washington, Seattle
  • 2Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois
JAMA Ophthalmol. Published online December 27, 2018. doi:10.1001/jamaophthalmol.2018.6202

Diagnosis in Western medicine is based on grouped classification of symptoms, signs, and test results to determine treatment and prognosis. Some conditions are known to have a specific underlying cause, such as infection or genetic mutation, but many labeled diseases are simply naming conventions for a set of correlated signs and symptoms without a known underlying cause.

Moving from syndromic description to etiologic diagnosis is a holy grail in the practice of medicine. Understanding disease pathogenesis and etiology is the basis for development of treatments or cure. In the modern era of uveitis, we have accepted that approximately 50% of uveitis is idiopathic. When uveitis is associated with a presumed noninfectious systemic condition, such as sarcoidosis, Behçet disease, or tubulointerstitial nephritis, the temptation may be to claim to have found a cause, but we must concede that these systemic diseases are also idiopathic conditions. Progress in understanding the role of microbes in the pathogenesis of human disease best exemplifies the successes of the transition from syndromic to etiologic diagnosis. For example, Marshall and Warren1 won the Nobel Prize in Physiology or Medicine in 2005 for their discovery of the bacterium Helicobacter pylori and its role in gastritis and peptic ulcer disease, conditions previously attributed to stress or lifestyle.