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

Authors

  • 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

Keywords:

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

Abstract

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".

References

Tsan GL, Claiborne RT. Ocular syphilis. Clinical and Experimental Optometry. 2021;104(7):756–9.

Effendi I, Rosana Y, Yasmon A, Indriatmi W. Multiplex nested polymerase chain reaction for Treponema pallidum using blood is more sensitive than using serum. Universa Medicina. 2018;37(1):75–84.

Goig GA, Blanco S, Garcia-Basteiro AL, Comas I. Contaminant DNA in bacterial sequencing experiments is a major source of false genetic variability. BMC Biol. 2020;18(1):24.

Pastuszczak M, Wojas-Pelc A. Current standards for diagnosis and treatment of syphilis: selection of some practical issues, based on the European (IUSTI) and U.S. (CDC) guidelines. Postepy Dermatol Alergol. 2013;30(4):203–10.

Tuddenham SA, Zenilman JM. Syphilis. In: Kang S, Amagai M, Bruckner AL, Enk AH, Margolis DJ, McMichael AJ, et al., editors. Fitzpatrick’s Dermatology. 9th ed. New York, NY: McGraw-Hill Education; 2019. p. 3145–72.

Borges CR, Almeida SM de, Sue K, Koslyk JLA, Sato MT, Shiokawa N, et al. Neurosyphilis and ocular syphilis clinical and cerebrospinal fluid characteristics: a case series. Arq Neuropsiquiatr. 2018;76(6):373–80.

Furtado JM, Arantes TE, Nascimento H, Vasconcelos-Santos DV, Nogueira N, de Pinho Queiroz R, et al. Clinical Manifestations and Ophthalmic Outcomes of Ocular Syphilis at a Time of Re-Emergence of the Systemic Infection. Sci Rep. 2018;8(1):12071.

Balba GP, Kumar PN, James AN, Malani A, Palestine AG, Welch JN, et al. Ocular syphilis in HIV-positive patients receiving highly active antiretroviral therapy. Am J Med. 2006;119(5):448.e21-25.

Narasimhan M, Lagoo M, Ramachandran R, Fernandes SD. Syphilis D’ Emblée: A case series of the great masquerader. J Family Med Prim Care. 2022;11(3):1216–20.

Tuddenham S, Ghanem KG. Ocular syphilis: opportunities to address important unanswered questions. Sex Transm Infect. 2016;92(8):563–5.

Tsuboi M, Nishijima T, Yashiro S, Teruya K, Kikuchi Y, Katai N, et al. Prognosis of ocular syphilis in patients infected with HIV in the antiretroviral therapy era. Sex Transm Infect. 2016;92(8):605–10.

Sparling P, Swartz M, Musher D, Healy B. Clinical Manifestations of Syphilis. In: Sexually Transmitted Diseases. 4th ed. McGraw Hill; 2008. p. 661–84.

Workowski KA, Bolan GA, Centers for Disease Control and Prevention. Sexually transmitted diseases treatment guidelines, 2015. MMWR Recomm Rep. 2015;64(RR-03):1–137.

Wang X, Abliz P, Deng S. Molecular Characteristics of Macrolide Resistance in Treponema pallidum from Patients with Latent Syphilis in Xinjiang, China. Infect Drug Resist. 2023;16:1231–6.

Zhang RL, Wang QQ, Zheng ZJ, Liang GJ, Yang LJ, Yang LG, et al. Relationship Between the High Frequency of 23S rRNA Point Mutations in Treponema Pallidum and Low Serological Response Rate to Azithromycin Treatment in China. International Journal of Dermatology and Venereology. 2019;2(1):6.

Orbe-Orihuela YC, Sánchez-Alemán MÁ, Hernández-Pliego A, Medina-García CV, Vergara-Ortega DN. Syphilis as Re-Emerging Disease, Antibiotic Resistance, and Vulnerable Population: Global Systematic Review and Meta-Analysis. Pathogens. 2022;11(12):1546.

Chen CY, Chi KH, Pillay A, Nachamkin E, Su JR, Ballard RC. Detection of the A2058G and A2059G 23S rRNA gene point mutations associated with azithromycin resistance in Treponema pallidum by use of a TaqMan real-time multiplex PCR assay. J Clin Microbiol. 2013;51(3):908–13.

Wang C, Cheng Y, Liu B, Wang Y, Gong W, Qian Y, et al. Sensitive detection of Treponema pallidum DNA from the whole blood of patients with syphilis by the nested PCR assay. Emerg Microbes Infect. 2018;7(1):83.

Vrbová E, Mikalová L, Grillová L, Pospíšilová P, Strnadel R, Dastychová E, et al. A retrospective study on nested PCR detection of syphilis treponemes in clinical samples: PCR detection contributes to the diagnosis of syphilis in patients with seronegative and serodiscrepant results. PLoS One. 2020;15(8):e0237949.

Hwang KB, Lee IH, Li H, Won DG, Hernandez-Ferrer C, Negron JA, et al. Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. Sci Rep. 2019;9(1):3219.

Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, et al. Medical implications of technical accuracy in genome sequencing. Genome Med. 2016;8(1):24.

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Published

2024-04-21

How to Cite

1.
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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Case Reports

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