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Handbook of Clinical Neurology 2023Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct... (Review)
Review
Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO). Intriguingly, many of those nuclear DNA pathogenic variants impair maintenance of the mitochondrial genome causing downstream mtDNA multiple deletions and depletion. In addition, numerous genetic causes of nonmitochondrial PEO have been identified.
Topics: Humans; Ophthalmoplegia, Chronic Progressive External; DNA, Mitochondrial; Ophthalmoplegia; Muscle, Skeletal; Syndrome
PubMed: 36813323
DOI: 10.1016/B978-0-12-821751-1.00018-X -
BMJ Case Reports Jul 2014Bickerstaff's brainstem encephalitis is a rare syndrome defined by the triad of ophthalmoplegia, ataxia and decreased consciousness. It is considered to be a variant of...
Bickerstaff's brainstem encephalitis is a rare syndrome defined by the triad of ophthalmoplegia, ataxia and decreased consciousness. It is considered to be a variant of Miller Fisher syndrome and Guillain-Barré syndrome but is differentiated from the two by the presence of central nervous system involvement, commonly in the form of impaired consciousness. We present an unusual case of Bickerstaff's encephalitis, where the patient presented with pseudobulbar affect.
Topics: Adult; Ataxia; Autoantibodies; Consciousness Disorders; Diagnosis, Differential; Encephalitis; Gangliosides; Humans; Magnetic Resonance Imaging; Male; Ophthalmoplegia
PubMed: 25080547
DOI: 10.1136/bcr-2014-205336 -
Journal of Cachexia, Sarcopenia and... Dec 2022Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide... (Review)
Review
Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the involvement pattern and imaging features of extra-ocular muscles (EOM). Dysfunction of EOM including the levator palpebrae can be due to muscle weakness, anatomical restrictions or pathology affecting the innervation. A comprehensive literature review was performed to find clinical and imaging clues for the diagnosis and follow-up of ptosis and ophthalmoparesis. We used five patterns as a framework for differential diagnostic reasoning and for pattern recognition in symptomatology, EOM involvement and imaging results of individual patients. The five patterns were characterized by the presence of combination of ptosis, ophthalmoparesis, diplopia, pain, proptosis, nystagmus, extra-orbital symptoms, symmetry or fluctuations in symptoms. Each pattern was linked to anatomical locations and either hereditary or acquired diseases. Hereditary muscle diseases often lead to ophthalmoparesis without diplopia as a predominant feature, while in acquired eye muscle diseases ophthalmoparesis is often asymmetrical and can be accompanied by proptosis and pain. Fluctuation is a hallmark of an acquired synaptic disease like myasthenia gravis. Nystagmus is indicative of a central nervous system lesion. Second, specific EOM involvement patterns can also provide valuable diagnostic clues. In hereditary muscle diseases like chronic progressive external ophthalmoplegia (CPEO) and oculo-pharyngeal muscular dystrophy (OPMD) the superior rectus is often involved. In neuropathic disease, the pattern of involvement of the EOM can be linked to specific cranial nerves. In myasthenia gravis this pattern is variable within patients over time. Lastly, orbital imaging can aid in the diagnosis. Fat replacement of the EOM is commonly observed in hereditary myopathic diseases, such as CPEO. In contrast, inflammation and volume increases are often observed in acquired muscle diseases such as Graves' orbitopathy. In diseases with ophthalmoparesis and ptosis specific patterns of clinical symptoms, the EOM involvement pattern and orbital imaging provide valuable information for diagnosis and could prove valuable in the follow-up of disease progression and the understanding of disease pathophysiology.
Topics: Humans; Graves Ophthalmopathy; Blepharoptosis; Ophthalmoplegia; Diplopia; Myasthenia Gravis; Pain
PubMed: 36172973
DOI: 10.1002/jcsm.13089 -
Ugeskrift For Laeger Sep 2022This is a case report of a 48-year-old female with no medical conditions, with a one-day history of diplopia, mild headache, vertigo and generalized paraesthesia. The...
This is a case report of a 48-year-old female with no medical conditions, with a one-day history of diplopia, mild headache, vertigo and generalized paraesthesia. The neurological examination revealed ophthalmoplegia, ataxia and areflexia leading to a diagnosis of Miller Fisher syndrome, a rare variant of Guillain-Barré syndrome. This highlights the importance of considering the rarer variants of Guillain-Barré syndrome in the differential diagnosis of patients who present with this triad.
Topics: Diagnosis, Differential; Female; Guillain-Barre Syndrome; Headache; Humans; Middle Aged; Miller Fisher Syndrome; Ophthalmoplegia
PubMed: 36205161
DOI: No ID Found -
Acta Myologica : Myopathies and... Dec 2020Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with characteristic, but not always specific,... (Review)
Review
Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with characteristic, but not always specific, histopathological features, often presenting with stable and/or slowly progressive truncal and proximal weakness. It is often not possible to have a diagnosis on clinical ground alone. Additional extraocular, respiratory, distal involvement, scoliosis, and distal laxity may provide clues. The "core myopathies" collectively represent the most common form of congenital myopathies, and the name pathologically corresponds to histochemical appearance of focally reduced oxidative enzyme activity and myofibrillar changes on ultrastructural studies. Because of the clinical, pathological, and molecular overlaps, central core disease and multiminicore disease will be discussed together.
Topics: Humans; Myopathies, Structural, Congenital; Myopathy, Central Core; Ophthalmoplegia; Ryanodine Receptor Calcium Release Channel
PubMed: 33458581
DOI: 10.36185/2532-1900-029 -
Archivos de La Sociedad Espanola de... Jan 2021In this review, a summary is presented of the main reports regarding the potential ocular manifestations of the new coronavirus disease (COVID-19). Scientific evidence... (Review)
Review
In this review, a summary is presented of the main reports regarding the potential ocular manifestations of the new coronavirus disease (COVID-19). Scientific evidence is based on letters to the editor, clinical cases and case series, cross-sectional, and a few longitudinal studies. To date, it includes viral conjunctivitis, immune conjunctivitis, and oculomotor palsies (OCP) due to the novel coronavirus. Retinopathy is discussed. A viral conjunctivitis outbreak can be isolated or associated with the systemic picture, mainly pulmonary, before or after the onset of respiratory symptoms. It can be both unilateral and bilateral, follicles are typical, and duration is variable between 5 and 21 days. Immune-mediated conjunctivitis consists of eye redness, together with erythroderma and fever. It appears more frequently in children, and has been associated with a «Kawasaki-like» disease and toxic shock syndrome. OCP can present on its own, or as part of Miller-Fisher syndrome, along with ataxia, and hyporeflexia. Ophthalmologists have a considerable risk of developing COVID-19 due to close contact with the patient, exposure to tears and eye secretions, and the use of various pieces of equipment and devices susceptible to contamination.
Topics: COVID-19; Conjunctivitis; Conjunctivitis, Viral; Female; Humans; Male; Ophthalmoplegia; SARS-CoV-2
PubMed: 32873480
DOI: 10.1016/j.oftal.2020.07.020 -
Acta Ophthalmologica Mar 2021To elucidate the patterns of strabismus and ophthalmoplegia associated with chronic progressive external ophthalmoplegia (CPEO) confirmed by mitochondrial DNA (mtDNA)...
PURPOSE
To elucidate the patterns of strabismus and ophthalmoplegia associated with chronic progressive external ophthalmoplegia (CPEO) confirmed by mitochondrial DNA (mtDNA) deletions in Asians.
METHODS
A total of 10 patients confirmed to have mtDNA deletion associated with CPEO were included. Long-range PCR encompassing the entire mtDNA was carried out. In the cases with mtDNA deletion, the exact deletion ranges of mtDNA were identified by sequencing. A full ophthalmologic examination including prism and alternate cover test in the primary position, evaluation of ductions and versions, and binocularity was performed in 10 patients with confirmed mtDNA deletions associated with CPEO.
RESULTS
All of the patients showed ophthalmoplegia as well as ptosis, even after eyelid surgeries. Ophthalmoplegia was symmetric between both eyes in nine patients (90%) while one patient (10%) showed asymmetric ophthalmoplegia with esotropia and left hypotropia. Among the nine patients with symmetric involvement, four patients (44%) showed exotropia, three (33%) had exotropia with vertical deviation, and the remaining two patients (22%) showed orthotropia. Five out of 10 patients (50%) complained of diplopia associated with strabismus, four of whom (80%) had vertical deviation. Three out of five patients (60%) without diplopia showed exotropia of 20 prism diopters (PD) to 50 PD.
CONCLUSIONS
Exotropia with/without vertical deviation is the most common form of strabismus in Asian patients with CPEO and only one of them showed a small angle of esotropia. Ophthalmoplegia could be asymmetric in 10% of CPEO patients.
Topics: Adolescent; Adult; Child; Chronic Disease; DNA, Mitochondrial; Disease Progression; Female; Gene Deletion; Humans; Male; Middle Aged; Ophthalmoplegia; Retrospective Studies; Strabismus; Young Adult
PubMed: 33191655
DOI: 10.1111/aos.14558 -
CMAJ : Canadian Medical Association... May 2018
Topics: Antiviral Agents; Herpes Zoster Ophthalmicus; Humans; Magnetic Resonance Imaging; Ophthalmoplegia; Retinal Necrosis Syndrome, Acute
PubMed: 29807938
DOI: 10.1503/cmaj.180063 -
Yonsei Medical Journal Dec 2018To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease.
PURPOSE
To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease.
MATERIALS AND METHODS
Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO).
RESULTS
The prevalences of clinical findings were as follows: ptosis and retinopathy, both over 80%; myopathy, including extraocular muscles, 75%; lactic acidosis, 71%; and elevated levels of serum creatine kinase, 47%. Half of the patients had normal magnetic resonance imaging findings. A biochemical enzyme assay revealed mitochondrial respiratory chain complex I defect as the most common (50%). The prevalence of abnormal muscle findings in light or electron microscopic examinations was 50% each, while that of large-scale mitochondrial DNA (mtDNA) deletions in a gene study was 25%. We compared the KSS and KSS-like groups with the CPEO patient group, which showed pigmentary retinopathy (<0.001), cardiac conduction disease (=0.013), and large-scale mtDNA deletions (=0.038). KSS and KSS-like groups also had gastrointestinal tract disorders such as abnormal gastrointestinal motility (=0.013) unlike the CPEO group.
CONCLUSION
Patients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluating patients with KSS.
Topics: Adult; DNA, Mitochondrial; Female; Gene Deletion; Humans; Kearns-Sayre Syndrome; Magnetic Resonance Imaging; Male; Middle Aged; Ophthalmoplegia; Ophthalmoplegia, Chronic Progressive External; Prevalence; Republic of Korea; Retinal Diseases; Retrospective Studies; Young Adult
PubMed: 30450853
DOI: 10.3349/ymj.2018.59.10.1190 -
Neurology India 2010Ophthalmoplegic migraine (OM) is a rare disorder characterized by childhood onset, ophthalmoplegia and migraine headaches. The 3rd cranial nerve is commonly involved in... (Review)
Review
Ophthalmoplegic migraine (OM) is a rare disorder characterized by childhood onset, ophthalmoplegia and migraine headaches. The 3rd cranial nerve is commonly involved in recurrent attacks. Involvement of the sixth and fourth nerves is uncommon. GdMRI discloses enhancement of the nerves. Adult cases are rare and confined to case reports. A viral pathogenesis is considered to be the cause of OM in view of nerve enhancement. We look at the various aspects of OM in children and adults.
Topics: Cranial Nerves; History, 19th Century; History, 20th Century; History, 21st Century; Humans; Migraine Disorders; Ophthalmoplegia
PubMed: 20228457
DOI: 10.4103/0028-3886.60388