Results 11 to 20 of about 9,186 (248)

Exophthalmos associated with chronic progressive external ophthalmoplegia [PDF]

Japanese Journal of Ophthalmology, 2022
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused on the incidence of exophthalmos in patients with CPEO.Retrospective observational case series METHODS ...
Yu Takeda, Hiroko Suzuki, Katsuhiro Hosono, Akiko Hikoya, Miwa Komori, Risako Inagaki, Takashi Haseoka, Shinji Arai, Yuri Takagi, Yoshihiro Hotta, Miho Sato   +10 more
semanticscholar   +8 more sources

Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia

Frontiers in Neurology, 2020
Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases.
Guanyu Zhang, Guanyu Zhang, Yue Hou, Zhaoxia Wang, Zheng Ye   +4 more
doaj   +2 more sources

Videographic analysis of blink dynamics in patients with chronic progressive external ophthalmoplegia, myogenic ptosis, and facial nerve palsy using smartphone camera: A comparative analysis

Health Science Reports, 2023
Background and Aims Congenital myogenic ptosis (CMP), chronic progressive external ophthalmoplegia (CPEO), and facial nerve palsy (FNP) are among the disorders which can seriously affect the blink dynamics of patients. Smartphone videography is a simple,
Nazanin Hedayati Amlashi, Mohammad Taher Rajabi, Mahan Shafie, Somayeh Heidarzadeh, Mohammad Bagher Rajabi, Seyedeh Simindokht Hosseini, Ainaaz Haadi, Parnian Soltani   +7 more
doaj   +2 more sources

Chronic progressive external ophthalmoplegia vs. myasthenia gravis – case report and review of literature [PDF]

Romanian Journal of Neurology, 2020
The mitochondrial myopathy consists of a heterogeneous group of conditions characterized by primary disfunction of mitochondrial respiratory chain causing muscle disease.
Alexandru Dima, Alexandra Oprisan, Alexandra E. Bastian   +2 more
doaj   +2 more sources

Optical coherence tomography findings in chronic progressive external ophthalmoplegia

Chinese Medical Journal, 2019
. Background:. Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO.
Yuan Wu, Lei Kang, Hai-Long Wu, Yue Hou, Zhao-Xia Wang, Yuan-Yuan Ji   +5 more
doaj   +2 more sources

Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review

Frontiers in Neurology
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy that is characterized by progressive ptosis and impaired ocular motility.
Ziyang Feng, Rui Lai, Jia Wei, Jia Wei, Xuan Liu, Xuan Liu, Xueqin Chen, Xueqin Chen, Yangsicheng Liu, Wenxin Qin, Xiude Qin, Xiude Qin, Fanxin Kong, Fanxin Kong   +13 more
doaj   +2 more sources

Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review [PDF]

Frontiers in Medicine
Kearns-Sayre syndrome is a mitochondrial DNA deletion disorder, classically characterized by a triad of onset before the age of 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia (CPEO).
Jiaqi Zhang, Ziqin Song, Huimin Zhou, Yaru Zhou, Shuchang Wang   +4 more
doaj   +2 more sources

Strabismus in chronic progressive external ophthalmoplegia

Acta Ophthalmologica, 2020
AbstractPurposeTo elucidate the patterns of strabismus and ophthalmoplegia associated with chronic progressive external ophthalmoplegia (CPEO) confirmed by mitochondrial DNA (mtDNA) deletions in Asians.MethodsA total of 10 patients confirmed to have mtDNA deletion associated with CPEO were included.
Ji Yeon Kim, Hee Kyung Yang, Namju Kim, Man Jin Kim, Sung Im Cho, Moon‐Woo Seong, Sung Sup Park, Jeong‐Min Hwang   +7 more
openaire   +3 more sources

Expanded‐Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series [PDF]

Clinical Case Reports
This case series presents the use of elamipretide in two patients with different progressive mitochondrial disorders (chronic progressive external ophthalmoplegia [CPEO] plus and neuropathy, ataxia, and retinitis pigmentosa [NARP] syndrome) characterized
Sharique Ansari, Mary Kay Koenig
doaj   +2 more sources

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Thymidine kinase 2 deficiency (TK2d) is an ultra‐rare autosomal recessive mitochondrial myopathy with variable presentations, including late‐onset forms beginning after age 12. Unlike early‐onset disease, the natural history of late‐onset TK2d remains poorly defined.
Martín-Jimenez P, Bermejo-Guerrero L, Ochoa LE, Navarro-Riquelme M, Garrido-Moraga R, Hernández-Laín A, Hernández-Voth A, González Quintana A, Bermejo-Moriñigo A, González-Méndez V, Martín-Arriscado Arroba C, Smirnov D, Konstantinovskiy N, Arenas J, Martin MÁ, Blázquez A, Domínguez-González C.   +16 more
europepmc   +2 more sources