Whole genome sequencing and nested polymerase chain reaction in ocular syphilis: A case report


  • Muji Iswanty Department of Dermatology and Venereology, Faculty of Medicine Makassar Hasanuddin University, Makassar
  • Muhammad Nasrum Massi Department of Clinical Microbiology, Faculty of Medicine Makassar Hasanuddin University, Makassar
  • Khairuddin Djawad Department of Dermatology and Venereology, Faculty of Medicine Makassar Hasanuddin University, Makassar
  • Ghea Anisah Department of Dermatology and Venereology, Faculty of Medicine Makassar Hasanuddin University, Makassar


Human immunodeficiency virus, nested PCR, ocular syphilis, whole genome sequencing, case report


Background: Syphilis is a sexually transmitted infection caused by Treponema pallidum. Ocular syphilis is a rare syphilis clinical manifestation. Methods: This study is a case report of a patient with ocular syphilis tested by Whole Genome Sequencing (WGS) and Nested Polymerase Chain Reaction (Nested PCR). Results: In this study, we reported a case of a 22-year-old male presented with blurry vision in his left eye. He had skin erosion on his testicles for the last year. His presenting visual acuity was 20/200 (left) and 20/200 (right). His right eye funduscopic showed an indistinct margin of papillary cranial nerve II (CN II) and hyperemia. He had reactive VDRL, TPHA, and HIV infection. Nested polymorphism chain reaction (nested PCR) showed T. pallidum A2059G mutation, but results were negative from whole genome sequencing (WGS). He received Benzathine Penicillin 2.4 million international unit injection (intramuscular) and symptomatic therapy. After three months of treatment, he had clinical improvement. Conclusions: Ocular syphilis can occur at any stage of syphilis and may mimic various ocular diseases. Thus, it is often referred to as "the great masquerader".


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How to Cite

Iswanty M, Massi MN, Djawad K, Anisah G. Whole genome sequencing and nested polymerase chain reaction in ocular syphilis: A case report. J Pak Assoc Dermatol [Internet]. 2024Apr.21 [cited 2024May22];34(2):556-62. Available from: https://jpad.com.pk/index.php/jpad/article/view/2750



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