Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia

DeBrosse, Suzanne D.; Ubogu, Eroboghene E.; Yaniglos, S.; Hassan, Mahdi; Leigh, R. John

doi:10.1038/sj.eye.6703024

Cited by 3 publications

(4 citation statements)

References 22 publications

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“…Furthermore, only these pale, global, fast fibers possess well folded post-junction folds, making them less susceptible to fatigue in MG, so that saccade speed is preserved in the face of restricted range of motion 17. It has also been proposed that pale fibers are relatively spared in CPEO due to mitochondrial disorders, since the pale global fibers have relatively few mitochondria 29. Our current finding of relatively preserved saccadic velocity conjugacy in P21 with early CPEO (Fig 4F) supports this proposal.…”

Section: Discussionmentioning

confidence: 99%

Diagnosing disconjugate eye movements

Serra¹,

Liao²,

Matta³

et al. 2008

Neurology

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Background Saccades are fast eye movements that conjugately shift the point of fixation between distant features of interest in the visual environment. Several disorders, affecting sites from brainstem to extraocular muscle, may cause horizontal saccades to become disconjugate. Prior techniques for detection of saccadic disconjugacy, especially in internuclear ophthalmoparesis (INO), have compared only one point in abducting versus adducting saccades, such as peak velocity. Methods We applied a phase-plane technique that compared each eye’s velocity as a function of change in position (normalized displacement) in 22 patients with disease variously affecting the brainstem reticular formation, the abducens nucleus, the medial longitudinal fasciculus, the oculomotor nerve, the abducens nerve, the neuromuscular junction or the extraocular muscles; 10 age-matched subjects served as controls. Results We found three different patterns of disconjugacy throughout the course of horizontal saccades: early abnormal velocity disconjugacy during the first 10% of the displacement, in patients with INO, oculomotor or abducens nerve palsy and advanced extraocular muscle disease; late disconjugacy in patients with disease affecting the neuromuscular junction; and variable middle-course disconjugacy in patients with pontine lesions. When normal subjects made disconjugate saccades between two targets aligned on one eye, the initial part of the movement remained conjugate. Conclusions Along with conventional measures of saccades, such as peak velocity, phase-planes provide a useful tool to determine the site, extent, and pathogenesis of disconjugacy. We hypothesize that the pale global extraocular muscle fibers, which drive the high-acceleration component of saccades, receive a neural command that ensures initial ocular conjugacy.

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Section: Discussionmentioning

confidence: 99%

Diagnosing disconjugate eye movements

Serra¹,

Liao²,

Matta³

et al. 2008

Neurology

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“…Initially, horizontal as well as vertical saccades are very slow; the saccade latency is prolonged. Patients suffering from diplopia or oscillopsia [60] present with asymmetrically affected eye muscles when the eye axes are not aligned. The disease progresses, as the name suggests, to complete ophthalmoplegia; ‘staring eyes’ with no possible eye movement are typical.…”

Section: Differential Diagnosesmentioning

confidence: 99%

Central ocular motor disorders, including gaze palsy and nystagmus

et al. 2014

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An impairment of eye movements, or nystagmus, is seen in many diseases of the central nervous system, in particular those affecting the brainstem and cerebellum, as well as in those of the vestibular system. The key to diagnosis is a systematic clinical examination of the different types of eye movements, including: eye position, range of eye movements, smooth pursuit, saccades, gaze-holding function and optokinetic nystagmus, as well as testing for the different types of nystagmus (e.g., central fixation nystagmus or peripheral vestibular nystagmus). Depending on the time course of the signs and symptoms, eye movements often indicate a specific underlying cause (e.g., stroke or neurodegenerative or metabolic disorders). A detailed knowledge of the anatomy and physiology of eye movements enables the physician to localize the disturbance to a specific area in the brainstem (midbrain, pons or medulla) or cerebellum (in particular the flocculus). For example, isolated dysfunction of vertical eye movements is due to a midbrain lesion affecting the rostral interstitial nucleus of the medial longitudinal fascicle, with impaired vertical saccades only, the interstitial nucleus of Cajal or the posterior commissure; common causes with an acute onset are an infarction or bleeding in the upper midbrain or in patients with chronic progressive supranuclear palsy (PSP) and Niemann–Pick type C (NP-C). Isolated dysfunction of horizontal saccades is due to a pontine lesion affecting the paramedian pontine reticular formation due, for instance, to brainstem bleeding, glioma or Gaucher disease type 3; an impairment of horizontal and vertical saccades is found in later stages of PSP, NP-C and Gaucher disease type 3. Gaze-evoked nystagmus (GEN) in all directions indicates a cerebellar dysfunction and can have multiple causes such as drugs, in particular antiepileptics, chronic alcohol abuse, neurodegenerative cerebellar disorders or cerebellar ataxias; purely vertical GEN is due to a midbrain lesion, while purely horizontal GEN is due to a pontomedullary lesion. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. The most common pathological types of central nystagmus are downbeat nystagmus (DBN) and upbeat nystagmus (UBN). DBN is generally due to cerebellar dysfunction affecting the flocculus bilaterally (e.g., due to a neurodegenerative disease). Treatment options exist for a few disorders: miglustat for NP-C and aminopyridines for DBN and UBN. It is therefore particularly important to identify treatable cases with these conditions.

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“…The CPEO cases without ptosis reported by Bucelli 14 had "markedly slow" saccades. DeBrosse 34 described a truck driver with CPEO and severe ptosis who used adhesive tape to retract his eyelids. That patient's horizontal and vertical saccades were slow, and he lacked smooth pursuit movements-his eyes used multiple small saccades to track moving targets.…”

Section: Discussionmentioning

confidence: 99%

“…That patient's horizontal and vertical saccades were slow, and he lacked smooth pursuit movements-his eyes used multiple small saccades to track moving targets. 34 Shinmei 35 reported on 3 patients with mitochondrial encephalopathy with lactic acid and stroke-like episodes. All 3 patients had horizontal and vertical saccadic undershoot, with prolonged latency, and low gain of smooth pursuits, with frequent "catch-up" saccades.…”

Section: Discussionmentioning

confidence: 99%

Chronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study

Russell

Hosek

Hoiriis

et al. 2019

Journal of Chiropractic Medicine

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Objective: The purpose of this report is to describe care of a patient with chronic progressive external ophthalmoplegia and bilateral vestibular hypofunction. Clinical Features: A 66-year-old patient presented with limited eye movement and mild ptosis, which led to a diagnosis of chronic progressive external ophthalmoplegia. Rotary chair testing suggested vestibular involvement. Other symptoms included dizziness, problems with balance, and chronic stiffness in his cervical and thoracic regions. He had anxiety about loss of function and limited exercise habits because of fear of falling. Examination methods included balance assessment, kinetic aspects of walking, and videonystagmography. Intervention and Outcome: He had already begun regular practice of vestibular rehabilitation exercises before receiving 18 sessions of manual and instrument-assisted chiropractic manipulation, along with mobilization, stretching, and transverse massage, over 37 weeks. In addition to self-reported improvements, there was substantially decreased postural sway during balance assessment and there were small improvements in eye movement, ptosis, and walking. Conclusion: This patient showed improvements in balance, eye movements, and walking while undergoing multimodal chiropractic care and practicing eye and balance exercises.

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Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia

Cited by 3 publications

References 22 publications

Diagnosing disconjugate eye movements

Diagnosing disconjugate eye movements

Central ocular motor disorders, including gaze palsy and nystagmus

Chronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study

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