Journal article

PCR-coupled sequencing achieves specific diagnosis of onchocerciasis in a challenging clinical case, to underpin effective treatment and clinical management

Amy Crowe, Anson Koehler, Harsha Sheorey, Anita Tolpinrud, Robin B Gasser



This study demonstrates the utility of a PCR-based DNA sequencing approach to make a specific diagnosis of onchocerciasis in a returned traveller. Although a clinical diagnosis was not possible, the surgical excision of a suprascapular nodule from this patient, combined with an histological examination of this nodule and PCR-based sequencing of DNA from a nematode from this lesion solved the case. The analysis of DNA sequence data confirmed the presence of Onchocerca volvulus infection, supporting an effective treatment-clinical management strategy for the patient.


Funding Acknowledgements

We acknowledge the international (e-diagnosis) team of parasitologists who helped identify the worm to the genus level, and John Slavin, Anatomical Pathologist at St Vincent's Pathology, Melbourne. We would also like to thank colleagues at the Ophthalmology Department at the Royal Victorian Eye and Ear Hospital, and the Department of Surgery and Department of Infectious Diseases at St Vincent's Hospital, Melbourne, for their contributions to the management of the patient. We wish to thank two anonymous reviewers for their constructive comments on the submitted manuscript. RBG's research is supported predominantly by the Australian Research Council; the National Health and Medical Research Council of Australia; Melbourne Water Corporation; and Yourgene Bioscience.