Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

• 발행기관: 대한의학유전학회
• 저자명: Hussein Algahtani Bader Shirah Khalid Alsaggaf Mohammad H. Al-Qahtani Angham Abdulrahman Abdulkareem Muhammad Imran Naseer Ahmad R. Abuzinadah
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 121~126쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

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 ge-netic testing confirmation is important to guide the management and counsel the patient about the prognosis and the man-agement 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 multidisci-plinary care in the management of cases of mitochondriopathy, especially CPEO.

목차

Introduction

Case

Discussion

Authors’ Contributions

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키워드

DNA polymerase gamma Chronic progressive external ophthalmoplegia Ophthalmologic surgical procedures Saudi Arabia