Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) is a rare disorder consisting of a bilateral adduction deficit and primary gaze position exotropia. Associated with bilateral medial longitudinal fasciculus lesions, it has been mostly reported in patients with multiple sclerosis and brainstem stroke. A 72-year-old man with characteristic clinical features of progressive supranuclear palsy (PSP) later developed WEBINO. Brain MRI revealed atrophy of the midbrain tegmentum. Caloric irrigation revealed intact horizontal eye movements in both eyes. We believe this to be the first report of WEBINO in PSP. The preservation of vestibulo-ocular horizontal eye movements supports the notion that the WEBINO in this condition was caused by a supranuclear rather than a nuclear lesion and suggests the possibility that even in other causes of WEBINO, the lesion is supranuclear and not in the medial rectus subnucleus as is often suggested.
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PMID:Wall-eyed bilateral internuclear ophthalmoplegia in a patient with progressive supranuclear palsy. 1877 46

A 62-year-old woman with relapsing-remitting multiple sclerosis suddenly complained of diplopia associated with bilateral adduction impairment, nystagmus of the abducting eye bilaterally, and sparing of abduction, convergence, and vertical eye movements, consistent with bilateral internuclear ophthalmoplegia. Within 1 week, she had developed a complete horizontal gaze paralysis even with the oculocephalic maneuver. Vertical saccades were slow and convergence was preserved. There was a right lower motor neuron seventh cranial nerve palsy. Brain MRI showed a new enhancing lesion involving the pontine tegmentum. Clinical and MRI follow-up showed recovery after 6 months. The slowing of vertical saccades may have been due to spread of the demyelinating lesion to the adjacent paramedian pontine reticular formation, which contains omnipause neurons lying in the raphe interpositus nucleus thought to inhibit excitatory burst neurons for horizontal and vertical saccades. Our patient verifies the fact that vertical saccadic abnormalities may occur from a lesion apparently confined to the pons.
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PMID:Impairment of vertical saccades from an acute pontine lesion in multiple sclerosis. 1914 31

The most frequent ophthalmologic sign in multiple sclerosis (MS) is optic neuritis (ON), but internuclear ophthalmoplegia, nystagmus, and ocular motor nerve palsies are also observed. This paper describes the most important signs suggesting an inflammatory origin of ON, most particularly MS. We detail new laboratory exams such as optic coherence tomography (OCT), which could be of potential interest for MS patients. Finally, we summarize the prognosis factors for disability in MS after a first episode of ON.
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PMID:[Optic neuritis in multiple sclerosis: diagnosis and prognosis data]. 1936 79

Ocular motor disorders are a well recognized feature of multiple sclerosis (MS). Clinical abnormalities of eye movements, early in the disease course, are associated with generalized disability, probably because the burden of disease in affected patients falls on the brainstem and cerebellar pathways, which are important for gait and balance. Measurement of eye movements, especially when used to detect internuclear ophthalmoplegia (INO), may aid diagnosis of MS. Measurement of the ocular following response to moving sinusoidal gratings of specified spatial frequency and contrast can be used as an experimental tool to better understand persistent visual complaints in patients who have suffered optic neuritis. Patients with MS who develop acquired pendular nystagmus often benefit from treatment with gabapentin or memantine.
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PMID:Neuro-ophthalmologic aspects of multiple sclerosis: Using eye movements as a clinical and experimental tool. 1966 80

Internuclear ophthalmoplegia (INO) is produced by a lesion in the brainstem involving the medial longitudinal fasciculus (MLF), between the oculomotor and abducens nuclei. This lesion is mostly causes by multiple sclerosis, and only rarely by head injury. INO is a common cause for diplopia in clinical practice. Authors present 2 cases of unilateral internuclear ophthalmoplegia as an isolated sequels of multiple sclerosis and head trauma. They discuss patho-mechanism and diagnostic problems, especially magnetic resonance imaging of MLF lesion.
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PMID:[Internuclear ophthalmoplegia in course of multiple sclerosis and head trauma. Presentation of 2 cases]. 1967 49

Internuclear ophthalmoplegia (INO) is a disorder of eye movements caused by a lesion in an area of the brain called the medial longitudinal fasciculus (MLF). The most common causes of INO are multiple sclerosis and brainstem infarction. Other causes include head trauma, brainstem and fourth ventricular tumors, Arnold-Chiari malformation, infection, hydrocephalus, and lupus erythematosus. Internuclear ophthalmoplegia is clinically characterized by total or partial failure to adduct one eye in lateral gaze and a monocular nystagmus of the abducting eye. It may be unilateral and bilateral. The method of choice for diagnostic imaging of MLF lesion in patients with INO is magnetic resonance. In this article authors present current opinion about pathogenesis, clinical symptoms, and management in patients with inter nuclear ophthalmoplegia.
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PMID:[Internuclear ophthalmoplegia--causes, symptoms and management]. 1967 51

Eye movements bring visual stimuli to the fovea and also maintain foveal fixation on a moving target and during head movements. These movements are performed by the ocular motor system that consists of ocular motor nerves and nuclei in the brainstem originating in the cerebral cortex, cerebellum, vestibular structures, and the extraocular muscles. The ocular motor system is divided according to anatomic location into infranuclear, nuclear, internuclear, and supranuclear components. It is important to distinguish supranuclear and internuclear from nuclear and infranuclear disturbances affecting cranial nerves III, IV, and VI, because the disturbances are of highly varied causes and present different clinical pictures. Internuclear ophthalmoplegia is due to a lesion of the medial longitudinal fasciculus, caused by multiple sclerosis in younger patients, particularly when the ophthalmoplegia is bilateral, and usually of vascular origin in the elderly. Eye movement abnormalities of supranuclear origin are characterized by gaze palsies, tonic gaze deviation, saccadic and smooth pursuit disorders, vergence abnormalities, nystagmus, and ocular oscillations. Supranuclear disorders result from lesions above the level of the ocular motor nerve nuclei. If oculocephalic maneuvers move the eyes appropriately, the lesion causing the gaze palsy is supranuclear. Supranuclear disorders account for almost 10% of all patients with disorders of eye movements.
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PMID:Internuclear and supranuclear disorders of eye movements: clinical features and causes. 1972 93

Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers. Bilateral sensorineural deafness beginning in late childhood and early adulthood was a prominent manifestation, followed by a combination of ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life onwards. We also identified novel clinical presentations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-like illness. In contrast to initial reports, multi-system neurological disease was associated with all mutational subtypes, although there was an increased risk with missense mutations [odds ratio = 3.06, 95% confidence interval = 1.44-6.49; P = 0.0027], and mutations located within the guanosine triphosphate-ase region (odds ratio = 2.29, 95% confidence interval = 1.08-4.82; P = 0.0271). Histochemical and molecular characterization of skeletal muscle biopsies revealed the presence of cytochrome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients harbouring OPA1 mutations, even in those with isolated optic nerve involvement. However, the cytochrome c oxidase-deficient load was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropathy group, implicating a causal role for these secondary mitochondrial DNA defects in disease pathophysiology. Individuals with dominant optic atrophy plus phenotypes also had significantly worse visual outcomes, and careful surveillance is therefore mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.
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PMID:Multi-system neurological disease is common in patients with OPA1 mutations. 2514 16

A 44-year-old man with progressive ataxia, facial weakness, bilateral adduction deficits, and abducting nystagmus was initially misdiagnosed and treated for multiple sclerosis because a midbrain anatomic cleft had been overlooked on brain MRI. Six cases of "midbrain (or mesencephalic) cleft" or "keyhole aqueduct syndrome" have been previously reported. This developmental anatomic abnormality always manifests bilateral internuclear ophthalmoplegia (INO), often together with ataxia, which may be progressive and debilitating. Because the INO is chronic, patients may have no visual symptoms. The cause of a midbrain cleft is uncertain, but it may be the midbrain version of a syrinx. There is no known effective treatment.
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PMID:Midbrain cleft as a cause of chronic internuclear ophthalmoplegia, progressive ataxia, and facial weakness. 2039 49

Patients with multiple sclerosis commonly describe visual symptoms that result from several eye movement abnormalities that occur from disruption of critical pathways in the brainstem, cerebellum, and cerebral hemispheres. These abnormalities include internuclear ophthalmoplegia, ocular motor palsy, ocular misalignment, pathologic nystagmus, impaired saccades, saccadic intrusions, and impaired pursuit. Detailed knowledge of these problems and their neuroanatomic localization will aid the physician by guiding diagnosis and therapeutic decision making.
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PMID:Eye movement abnormalities in multiple sclerosis. 2063 94


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