Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling
10.5734/JGM.2021.18.2.121
- Author:
Hussein ALGAHTANI
1
;
Bader SHIRAH
;
Khalid ALSAGGAF
;
Mohammad H. AL-QAHTANI
;
Angham Abdulrahman ABDULKAREEM
;
Muhammad Imran NASEER
;
Ahmad R. ABUZINADAH
Author Information
1. Neurology Section, Department of Medicine, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
- Publication Type:Case Report
- From:Journal of Genetic Medicine
2021;18(2):121-126
- CountryRepublic of Korea
- Language:English
-
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.
