Disease relevance of Ophthalmoplegia

• Some patients had only ocular myopathy, whereas others had Kearns-Sayre syndrome, a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia [1].
• In the acute phase of mussel-induced intoxication, the patients had headache, seizures, hemiparesis, ophthalmoplegia, and abnormalities of arousal ranging from agitation to coma [2].
• Niemann-Pick disease type C (NPC) is a fatal, autosomal recessive lipidosis characterized by lysosomal accumulation of unesterified cholesterol and multiple neurological symptoms, such as vertical supranuclear ophthalmoplegia, progressive ataxia, and dementia [3].
• A 30-year-old male drug abuser developed ophthalmoplegia, bulbar paralysis, and limb weakness responsive to edrophonium [4].
• We suggest that these patients manifested a hereditary disorder with distinctive clinical, radiological, and neuropathological features, and propose the acronym POLIP to emphasize the distinctive tetrad of polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction [5].

Psychiatry related information on Ophthalmoplegia

• We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness [6].
• Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene [7].
• Wernicke's encephalopathy, neuropathy caused by a deficiency of thiamine is a syndrome characterized by memory troubles, mental confusion, ophthalmoplegia and nystagmus [8].
• The classic triad of confusion, ophthalmoplegia (or nystagmus) and ataxia may be absent, and the history of alcohol abuse or other causes of thiamine deficiency may be unknown [9].

High impact information on Ophthalmoplegia

• Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia [10].
• All three CFTD cases with ACTA1 mutations had severe congenital weakness and respiratory failure without ophthalmoplegia [11].
• In a myasthenia gravis patient with profound ophthalmoplegia who was given edrophonium during forward fixation or horizontal/vertical saccades, horizontal macrosaccadic oscillations occurred that were conjugate, 2 to 3 Hz, and of peak-to-peak amplitude up to 50 degrees [12].
• To establish the etiology of acute ophthalmoparesis, I tested sera from 8 patients with acute ophthalmoparesis for anti-GQ1b antibody [13].
• Painful ophthalmoplegia in systemic lupus erythematosus [14].

Chemical compound and disease context of Ophthalmoplegia

• A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described [15].
• Steroid-responsive painful ophthalmoplegia is not always Tolosa-Hunt [16].
• Phenytoin-induced ophthalmoplegia [17].
• Complete ophthalmoplegia as a complication of acute corticosteroid- and pancuronium-associated myopathy [18].
• The mechanism underlying this ophthalmoplegia may be related to the ability of phenytoin to potentiate inhibitory synapses in the vestibulo-oculomotor pathway which utilize gamma aminobutyric acid, and to increase the discharge rate of Purkinge cells which exert an inhibitory influence on the same structures [17].

Biological context of Ophthalmoplegia

• We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including seizures, dystonia, ophthalmoplegia, Kearns-Sayre syndrome, Leigh disease, and Friedreich's ataxia [19].
• BACKGROUND: The ratios of abducting to adducting eye movements (versional dysconjugacy index, VDI) for saccadic velocity and acceleration have been useful measures by which to objectively characterize internuclear ophthalmoparesis (INO) [20].
• This syndrome, comprising the triad of ataxia, areflexia, and ophthalmoplegia, correlates highly with the presence of serum anti-GQ1b antibodies, arising through molecular mimicry with microbial oligosaccharides [21].
• Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1 [22].
• Metabolic effects of pyridoxine alpha-ketoglutarate in ophthalmoplegia plus [23].

Anatomical context of Ophthalmoplegia

• Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers [24].
• Therefore, normal MRI would probably exclude THS, whereas in the appropriate clinical setting of steroid-responsive painful ophthalmoplegia, MRI showing the cavernous sinus abnormality described here suggests a diagnosis of THS [25].
• A 7-year-old girl with progressive ataxia, spasticity, supranuclear ophthalmoplegia, and sea-blue histiocytes in her bone marrow underwent orthotopic liver transplantation for hepatocellular carcinoma [26].
• His condition rapidly deteriorated, and he experienced ophthalmoplegia, tetraplegia, loss of brainstem reflexes and deep tendon reflexes, and deep coma [27].
• Resolution of the ophthalmoplegia and the decrease in abnormally high levels of cerebrospinal fluid myelin basic protein after discontinuation of intrathecal medication suggested demyelination from chemotherapy and irradiation [28].

Gene context of Ophthalmoplegia

• ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia [29].
• CASE DESCRIPTION: A 33-year-old woman who had suffered from ophthalmoplegia, bilateral ptosis, ataxia, retinitis pigmentosa, and epilepsy since childhood was diagnosed to have Kearns-Sayre syndrome [30].
• Therefore, we suggest that ophthalmoplegia also occurs in the MELAS syndrome [31].
• This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia [32].
• Eighteen affected individuals had congenital bilateral ptosis and restrictive infraductive (downward) ophthalmoplegia, consistent with the published descriptions of classic CFEOM families linked to the CFEOM1 locus [33].

Analytical, diagnostic and therapeutic context of Ophthalmoplegia

• Total external ophthalmoplegia was observed in a patient following oral administration of phenytoin, although the state of consciousness was relatively unimpaired and the plasma phenytoin level was within the recommended therapeutic range [34].

References