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)

A case of benign episodic bilateral juvenile internal ophthalmoplegia in a nine-year-old female is presented. Two separate episodes of sudden onset of bilateral mydriasis and accommodative loss accompanied by headache occurred, without any other physical, neuroophthalmic, or third nerve involvement. Complete resolution occurred over a period of months in both episodes. The differential diagnosis of isolated internal ophthalmoplegia is reviewed, and the episodic unilateral mydriasis syndrome of Hallett and Cogan appears to be similar to the bilateral involvement in the case presented.
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PMID:Benign episodic bilateral juvenile internal ophthalmoplegia. 686 14

PURPOSE.: Miller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that commonly presents with diplopia after the acute onset of complete bilateral external ophthalmoplegia. Ophthalmoplegia is often accompanied by other neurological deficits such as ataxia and areflexia that characterize MFS. Although MFS is a clinical diagnosis, serological confirmation is possible by identifying the anti-GQ1b antibody found in most of the affected patients. We report a patient with MFS who presented with clinical signs suggestive of ocular myasthenia gravis but in whom the correct diagnosis was made on the basis of serological testing for the anti-GQ1b antibody. CASE REPORT.: An 81-year-old white man presented with an acute onset of diplopia after a mild gastrointestinal illness. Clinical examination revealed complete bilateral external ophthalmoplegia and left-sided ptosis. He developed more marked bilateral ptosis, left greater than right, with prolonged attempted upgaze. He was also noted to have a Cogan lid twitch. Same day evaluation by a neuro-ophthalmologist revealed mild left-sided facial and bilateral orbicularis oculi weakness. He had no limb ataxia but exhibited a slightly wide-based gait with difficulty walking heel-to-toe. A provisional diagnosis of ocular myasthenia gravis was made, and anticholinesterase inhibitor therapy was initiated. However, his symptoms did not improve, and serological testing was positive for the anti-GQ1b immunoglobulin G antibody, supporting a diagnosis of MFS. CONCLUSIONS.: Although the predominant ophthalmic feature of MFS is complete bilateral external ophthalmoplegia, it should be recognized that MFS has variable associations with lid and pupillary dysfunction. Such confounding neuro-ophthalmic features require a thorough history, neurological examination, neuroimaging, and serological testing for the anti-GQ1b antibody to arrive at a diagnosis of MFS.
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PMID:Miller Fisher syndrome mimicking ocular myasthenia gravis. 2319 Jul 19

Ocular myasthenia is a form of myasthenia gravis in which weakness is restricted to the ocular muscles and may produce significant visual disability. Patients present with fluctuating ptosis, diplopia, or a combination of both. Examination may show any type of ocular motility deficit ranging from isolated muscle palsy to complete ophthalmoplegia. Cogan lid twitch, enhanced ptosis, peek sign, and saccadic fatigue are specific examination findings that support the clinical diagnosis of myasthenia gravis. Confirmation of the diagnosis is challenging with autoantibody serology, and repetitive nerve stimulation studies are often negative.
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PMID:Ocular Myasthenia. 2965 47