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KMID : 1189120210180020121
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대한의학유전학회지
2021 Volume.18 No. 2 p.121 ~ p.126
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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
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Algahtani Hussein
Shirah Bader Hamza
Alsaggaf Khalid
Al-Qahtani Mohammad H.
Abdulkareem Angham Abdulrahman
Naseer Muhammad Imran
Abuzinadah Ahmad R.
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Abstract
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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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KEYWORD
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DNA polymerase gamma, Chronic progressive external ophthalmoplegia, Ophthalmologic surgical procedures, Saudi Arabia
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