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)

Six members of a family--the mother, three daughters, and two sons--have a unique syndrome consisting of congenital external ophthalmoplegia, bilateral facial weakness, lingua scrotalis, progressive chorioretinal sclerosis, and an intellectual deficit. Bilateral ptosis and almost complete ophthalmoplegia were found in three of the family members, bilateral facial weakness in two, and Parinaud's syndrome and convergence paresis in one. Electromyographically, a lesion of the lower motor neurons--"nuclear ophthalmoplegia"--was found. Three members of the family had different stages of progressive chorioretinal sclerosis and two had myopia. All the family members had lingua scrotalis, and all of those who had ophthalmoplegia had low IQs. Electroretinographic reactions were subnormal or absent in patients with chorioretinal degeneration. It was concluded that an extensive abiotrophic process, genetically conditioned, was a possibility.
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PMID:Progressive nuclear ophthalmoplegia associated with mental deficiency, lingua scrotalis, and other neurologic and ophthalmologic signs in a family. 116 9

Electrophysiological studies showed that a patient with Aland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retino-geniculate anomaly. Also the spontaneous and optokinetic nystagmus did not resemble that of the large majority of human albinos. The marked asymmetry found in this patient seems to be typical for humans with a defective development of foveal binocular vision. These findings are in agreement with clinical, nystagmographic and EM findings that Aland eye disease is distinct from the Nettleship-Falls type of X-linked ocular albinism. Furthermore, Aland eye disease is different from X-chromosomal congenital stationary night blindness with myopia by the fact that the scotopic functions are only moderately affected and there is no restriction of the peripheral photopic visual fields. In addition, there is latent nystagmus of extraocular type that appears also in female carriers. There is no ophthalmoplegia, there is a progression of the myopia and the dyschromatopsia is of secondary type.
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PMID:Aland eye disease: no albino misrouting. 407 63

A family with Kearns Sayre syndrome, characterized by a distinctive type of progressive external ophthalmoplegia, retinal pigmentary dystrophy and cardiac disturbances is described. Additional malformations as arachnodactily, sternal deformity, high arched palate and severe myopia are reported. The spectrum of the variable phenotypic expression is delineated. The occurrence of the disease in these patients, off-spring of a consanguineous mating, reinforce the assumption that hereditary transmission may play a role in the pathogenesis of at least some cases. The pedigree analysis suggest autosomal recessive inheritance.
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PMID:Kearns-Sayre syndrome. 717 61

The occurrence of chronic progressive external ophthalmoplegia, pigmentary retinal dystrophy and cardiac disturbances associated with arachnodactily, sternal deformity, high arched palate and severe myopia is reported. A pedigree analysis of this Jewish-Iranian family strongly suggests that the condition is inherited as autosomal recessive trait. The terminology of the condition and the spectrum of it variable phenotypic expression is described.
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PMID:Ophthalmoplegia-plus. 730 70

A 48-year-old woman was referred to the First Dept. of Int. Med., Nagasaki Univ. Sch. Med., in August, 1979, with a six-month history of recurrent episodes of right-sided painful ophthalmoplegia and diplopia. An epidode affected the right eye, lasted one to two weeks, and relapsed every month. On examination she had a complete ptosis on the right side and pain on the right eye. All extraocular muscle supplied by the 3rd nerve were paralysed. The pupils were equal in size both sides, reacting to light completely. Visual acuity was normal except myopia. All the other cranial nerves and the remainder of central nervous system was normal. Results of thyroid function tests and of lumbar puncture were normal. The glucose tolerance test showed a mild diabetic pattern. Blood and CSF cultures for bacteria, fungi, and acid-fast bacillus were negative. The skull, brain CT scan, and carotid angiogram were within normal limits. A tentative diagnosis of Tolosa-Hunt syndrome was made after an unproductive search for a cause for this woman's painful ophthalmoplegia and unsuccessful treatment of ophthalmoplegia with antibiotics or diet therapy for mild hyperglycemia. The patient was given prednisolone 30 mg daily orally when she had the 9th attack of painful ophthalmoplegia Pain, ptosis, and diplopia disappeared in 5 days and she did not show any recurrence of symptoms over the next 7 months.
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PMID:[The Tolosa-Hunt syndrome: report of a case with recurrent (9 times) painful ophthalmoplegia (author's transl)]. 732 86

During pregnancy, hormonal and hemodynamic modifications can generate a number of organic consequences, specifically ocular, more or less regressive in systemic disease. Refraction disorders are marked by myopization, often not very significant and always regressive within six weeks after the childbirth. Pregnancy could cause a thickening of the cornea and a modification of its curvature. Likewise, contact lens intolerance is common, secondary to the modification of lacrimal film, but does not systematically contraindicate lens wearing. Photorefractive surgeries are ill-advised during pregnancy. Hemeralopia is the most common visual complaint of the pregnant woman. Oculomotor disorders are exceptional. Convergence insufficiency or accommodation disorders are the most common anomalies described. These disorders usually regress in the postpartum period. Oculomotor palsies could be the first symptoms of pre-eclampsia or an associated intracranial pathology. They are specific palsies such as in the abducens nerve and the oculomotor nerve in very unusual cases. Nevertheless, oculomotor paralysis in the pregnant woman should motivate neuroradiological exploration. Intensive labor can be rhegmatogenous in women with severe myopia. Examination of the retinal periphery is systematic before and during pregnancy in these cases. Systematic cesarean section is not formally indicated. It is nevertheless preferable to facilitate delivery with epidural anesthesia.
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PMID:[Understanding refraction disorders and oculomotor problems during pregnancy]. 2045 Dec 89

Diplopia is a frequent neuro-ophthalmologic symptom with diverse etiologies. This article describes elementary diagnostic tests and frequent causes of diplopia. Monocular diplopia persists when the other eye is closed and usually disappears when the patient looks through a pinhole. It is usually caused by errors in the optical media of the eye and has to be differentiated from spectacle-induced side effect and non-organic disorders. A sign of non-organic etiology is absence of change in image position when the head is tilted. Binocular diplopia disappears regardless of which eye is closed. Binocular diplopia occurs when the images of both eyes cannot be fused. The most frequent direct cause of diplopia is acquired strabismus. Knowledge of several specific types of strabismus enables efficient patient management. Congenital and decompensating strabismus like accommodative esotropia, pathophoria, strabismus surso- and deorsoadductorius, retraction syndrome, Brown's syndrome and esotropia in high myopia only need ophthalmologic treatment. Orbital injury, orbital tumor, ocular myositis, Graves orbitopathy and vascular disease usually require multidisciplinary management. Neurogenic paresis, superior oblique myokymia, ocular neuromyotonia, myasthenia, chronic progressive external ophthalmoplegia (CPEO), internuclear ophthalmoplegia (INO) and skew deviation require specific neurologic examination. Treatment of diplopia includes treatment of the fundamental disorder, monocular occlusion, prisms and strabismus surgery.
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PMID:How to deal with diplopia. 2298 79

A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient's diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis.
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PMID:Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses. 2818 20

Based on the data from the Information Library of Acupuncture-Moxibustion of TCM, the bibliometric analysis was applied to analyze and evaluate the literature regarding clinical research of acupuncture for ophthalmopathy published between 1954 to 2016, hoping to objectively reflect the disease spectrum and indication of acupuncture for ophthalmopathy. The results showed that the disease spectrum of acupuncture for ophthalmopathy involved 47 specific diseases in 13 types of diseases. The total number of cases was 176 469, and the number of effective cases was 160 662, and the effective rate was 91.0%. The indication of acupuncture for ophthalmopathy included myopia, blepharoptosis and conjunctivitis. The commonly used indications were strabismus, dry eye and ophthalmoplegia, and the secondary indications were optic atrophy, blepharoptosis, oculomotor paralysis, blepharospasm, amblyopia. The most commonly used acupuncture points for ophthalmopathy were Cuanzhu (BL 2), Jingming (BL 1), Taiyang (EX-HN 5), and the most commonly used auricular points were yan (LO5), gan (CO12) and shen (CO10). As for the methods of acupoint combination, local acupoints were mainly selected, combined with distal acupoint to assist treatment.
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PMID:[The patterns analysis of clinical application of acupuncture for ophthalmopathy]. 3014 5