Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

  • Algahtani, Hussein (Neurology Section, Department of Medicine, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences) ;
  • Shirah, Bader (King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences) ;
  • Alsaggaf, Khalid (College of Medicine, King Saud bin Abdulaziz University for Health Sciences) ;
  • Al-Qahtani, Mohammad H. (Center of Excellence in Genomic Medicine Research, King Abdulaziz University) ;
  • Abdulkareem, Angham Abdulrahman (Center of Excellence in Genomic Medicine Research, King Abdulaziz University) ;
  • Naseer, Muhammad Imran (Center of Excellence in Genomic Medicine Research, King Abdulaziz University) ;
  • Abuzinadah, Ahmad R. (Division of Neurology, Department of Internal Medicine, King Abdulaziz University Hospital, College of Medicine, King Abdulaziz University)
  • Received : 2021.06.03
  • Accepted : 2021.08.20
  • Published : 2021.12.31
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Abstract

Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive. However, in moderate cases, surgery might be indicated including surgeries for ptosis and strabismus. In this article, we report a Saudi patient with CPEO due to compound heterozygous variants in the DNA polymerase gamma (POLG) gene c.2246T>C p.(Phe749Ser) and c.1735C>T p.(Arg579Trp), which are classified as pathogenic. Proper diagnosis with genetic testing confirmation is important to guide the management and counsel the patient about the prognosis and the management options. The patient was successfully managed with bilateral frontalis sling and illustrates the importance of surgical intervention to improve vision and cosmetic appearance in patients with CPEO. We emphasize the importance of multidisciplinary care in the management of cases of mitochondriopathy, especially CPEO.

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References

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