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Illuminating uveitis: metagenomic deep sequencing identifies common and rare pathogens
Thuy Doan1,2, Michael R Wilson3,4, Emily D Crawford3,5
1Francis I. Proctor Foundation, University of California San Francisco, San Francisco, CA, USA.
Genome Medicine
|August 27, 2016
Summary
Metagenomic deep sequencing (MDS) accurately detects pathogens in intraocular fluid, aiding diagnosis of infectious uveitis. This method identified various pathogens, including a chronic rubella virus infection, highlighting the eye as a potential pathogen reservoir.
Area of Science:
- Ophthalmology
- Infectious Diseases
- Genomics
Background:
- Ocular infections are a significant cause of blindness globally.
- The cause of infectious uveitis remains unknown in approximately 50% of cases.
- Accurate and timely diagnosis is crucial for effective treatment and prognosis.
Purpose of the Study:
- To evaluate the efficacy of unbiased metagenomic deep sequencing (MDS) in detecting pathogens in intraocular fluid.
- To compare MDS results with conventional diagnostic methods for uveitis.
Main Methods:
- Intraocular fluid samples were collected from six patients (five with known diagnoses, one with idiopathic uveitis).
- Samples underwent metagenomic deep sequencing (MDS).
- A computational pipeline analyzed non-host sequences to identify pathogens.
Main Results:
- MDS results were consistent with known diagnoses in four patients.
- MDS correctly identified Cryptococcus neoformans, Toxoplasma gondii, and herpes simplex virus 1.
- Rubella virus was identified in a case of chronic idiopathic uveitis, suggesting long-term viral replication.
Conclusions:
- Unbiased MDS is effective in identifying a range of pathogens (fungi, parasites, DNA/RNA viruses) from small intraocular fluid volumes.
- The findings underscore the eye's potential as a long-term reservoir for viruses.
- This has implications for managing chronic infections and preventing future epidemics.
