Ocular Whipple Disease: Cases Diagnosed Over Four Decades

Purpose: To describe ocular involvement in subjects with Whipple’s disease (WD). Methods: Retrospective review of documented WD cases seen at Mayo Clinic between 1980 and 2021 with ocular involvement. Results: Of 217 patients with WD, 30 had eye exams and four (two female, median age 58.5 years) had ocular involvement. Findings included anterior/intermediate uveitis (n = 2), intermediate uveitis and phlebitis (n = 1), and chorioretinitis with vitritis (n = 1). The diagnosis was confirmed by vitreous biopsy in three of four cases. In two cases, WD diagnosis was unconfirmed prior to the ocular diagnosis. Systemic manifestations included gastrointestinal symptoms in all patients, synovitis (n = 3), weight loss (n = 2), and pericarditis (n = 1). Mean time from onset of ocular symptoms to ocular diagnosis was 11 months (range 2–28 months). Prior systemic symptoms were present as long as 3 years. Conclusions: WD is uncommon and ocular involvement is even more rare. However, WD should be considered in the differential for all patients with chronic recalcitrant uveitis, especially in the setting of polyarthralgias and/or gastrointestinal symptoms. Vitreous biopsy is a reliable method to diagnose ocular WD. Abbreviations and Acronyms: Whipple’s disease (WD), intestinal lipodystrophy (IL), polymerase-chain reaction (PCR), periodic acid-Schiff (PAS), trimethoprim/sulfamethoxazole (TMP/SMX).