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Mitochondrial Chronic Progressive External Ophthalmoplegia

Brain Sciences
Background: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis ...
Ali Ali, Ali Esmaeil, Raed Behbehani
doaj   +4 more sources

Chronic Progressive External Ophthalmoplegia (CPEO): Rehabilitation utilizing scleral contact lenses [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To evaluate the use of scleral contact lenses in managing symptoms of Chronic Progressive External Ophthalmoplegia (CPEO) after failed conventional treatments. Observations: A 69-year-old female with CPEO presented with persistent discomfort and
Nir Erdinest, Nadav Shemesh, Naomi London, David Landau, Itay Lavy   +4 more
doaj   +3 more sources

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study [PDF]

BMC Ophthalmology
Background Primary mitochondrial myopathies (PMM) are disorders that involve defects in oxidative phosphorylation (OXPHOS) and impair mainly, but not exclusively, skeletal muscles.
Gustavo Savino, Federico Giannuzzi, Valentina Cima, Davide Brando, Claudia Fossataro, Serenella Servidei, Maria Cristina Savastano, Guido Primiano   +7 more
doaj   +3 more sources

Type and Frequency of Misdiagnosis and Time Lag to Diagnosis in Patients with Chronic Progressive External Ophthalmoplegia [PDF]

Journal of Ophthalmic & Vision Research
Purpose: Since ptosis is an early feature of chronic progressive external ophthalmoplegia (CPEO), patients are commonly misdiagnosed with other causes of ptosis.
Nasser Karimi, MPH; Hossein Ghahvehchian, Ali Keyhani, Amir Manavishad, Christopher J Compton, Jeremy D Clark, Nicole L West, Mohsen B Kashkouli   +7 more
doaj   +3 more sources

Myosin myopathy presenting as chronic progressive external ophthalmoplegia

Annals of Indian Academy of Neurology, 2023
Aamna M H. Maniyar, Rakesh K Singh, Pawan T Ojha, Gaurav S Chaudhary, Anuradha P Mahto, Arjun G Shah   +5 more
doaj   +4 more sources

Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report

BMC Neurology, 2023
Background Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease with slowly progressive bilateral ptosis and symmetric ophthalmoplegia due to a genetic mutation that results in defective oxidative phosphorylation.
Yazan Eliyan, Kourosh Rezania, Christopher M. Gomez, Kaitlin Seibert   +3 more
doaj   +2 more sources

Living with chronic progressive external ophthalmoplegia alongside cataract, peptic ulcer disease, diabetes and hypertension in Ghana

Clinical Case Reports, 2023
Key Clinical Message This is the case of a 51‐year‐old woman with chronic progressive external ophthalmoplegia (CPEO) alongside some comorbidities in a low‐resource setting.
Naa Adzoa Adzeley Boi‐Dsane, Anwar Sadat Seidu, Judith Simon, Gilbert Batieka Bonsaana   +3 more
doaj   +2 more sources

A novel m.14677 T > C variant in mitochondrial tRNA^Glu gene causes chronic progressive external ophthalmoplegia. [PDF]

J Hum Genet
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by progressive ptosis and ophthalmoplegia, caused by single deletions, point mutations, or multiple deletions in mitochondrial DNA (mtDNA).
Ueda NK, Mimaki M, Ito S, Murakami A, Yokoi S, Nishino I, Katsuno M, Goto YI.   +7 more
europepmc   +2 more sources

Chronic Progressive External Ophthalmoplegia: A Case Report. [PDF]

Cureus
Chronic progressive external ophthalmoplegia (CPEO) is a rare mitochondrial disorder characterized by bilateral, slowly progressive ptosis and paralysis of the extraocular muscles.
Seemongal-Dass RV, Gracen DJ, Seemongal-Dass RR, Chang B.   +3 more
europepmc   +2 more sources

A case of chronic progressive external ophthalmoplegia presenting with central neurogenic hyperventilation

Brain Disorders, 2022
We report a female patient with typical chronic progressive external ophthalmoplegia (CPEO) presented with central neurogenic hyperventilation (CNH), which is characterized by sustained hyperventilation during awake and sleep.
Mariko Sano, Tomoyo Shimada, Anri Sakurai, Yu-ichi Goto, Taiji Tsunemi, Nobutaka Hattori   +5 more
doaj   +2 more sources