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Ocular Whipple's disease: earlier definitive diagnosis
R Y Chan1, L A Yannuzzi, C S Foster
1Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA.
Purpose:
Whipple's disease is a rare, chronic, and multiorgan bacterial disease that predominantly involves the gut and its lymphatic drainage in middle-aged Caucasian men but may involve the eye. It is often difficult to diagnose and treat. We report results of one more polymerase chain reaction (PCR) analysis-diagnosed ocular Whipple's disease (OWD) case and the care of three new patients with ocular inflammation caused by OWD.
Design:
Retrospective noncomparative case series.
Participants:
Three patients.
Methods:
Diagnostic PCR was performed on a vitreous sample, medical records of three patients with OWD were reviewed, and a literature review (1907 to present) located 74 OWD cases. Analysis of published OWD cases to seek out factors that contribute to earlier, definitive diagnosis and treatment of OWD is made.
Main Outcome Measures:
Response of ocular inflammation and vision to treatment.
Results:
One of 3 new and 4 of 74 published OWD cases reviewed were diagnosed with PCR on vitreous samples and subsequently successfully treated with antibiotics without devastating central nervous system (CNS) sequelae.
Conclusion:
Diagnostic PCR on vitreous samples and recognition of key presenting symptoms in patients with OWD allows earlier definitive diagnosis, when the disease may be more amenable to antibiotic treatment, compared with "late" CNS Whipple's disease in the cases reviewed.
Insights
Early diagnosis of ocular Whipple's disease (OWD) using polymerase chain reaction (PCR) on vitreous samples allows successful antibiotic treatment, preventing severe neurological complications. This approach is crucial for managing this rare bacterial infection.
Area of Science:
- Ophthalmology
- Infectious Diseases
- Neurology
Background:
- Whipple's disease is a rare, chronic, multisystem bacterial infection.
- Ocular involvement (OWD) can be challenging to diagnose and treat.
- Early diagnosis is critical to prevent severe sequelae.
Observation:
- A retrospective case series of three patients with OWD was conducted.
- Diagnostic polymerase chain reaction (PCR) on vitreous samples was utilized.
- A literature review of 74 OWD cases was performed.
Findings:
- PCR on vitreous samples led to successful antibiotic treatment in one new and four previously reported OWD cases.
- Early diagnosis and treatment prevented central nervous system (CNS) involvement.
- Key presenting symptoms aid in earlier definitive diagnosis.
Implications:
- Diagnostic PCR of vitreous samples is a valuable tool for OWD diagnosis.
- Timely diagnosis and treatment improve patient outcomes and prevent CNS complications.
- Recognizing OWD symptoms facilitates earlier intervention and better prognosis.

