Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A group of 2205 operations of strabismus in the course of 12 years reveals a clear predominance of operations of dynamic strabismus (94%), as compared with surgery of paralytic strabismus and ocular torticollis on account of nystagmus (6%). This fact provides evidence of a marked ratio of a non-paralytic aetiology of strabismus in the child population. In esotropia, the most frequent type of strabismus, the authors consider as most suitable the technique of weakening of the inner rectus muscles by a dosed elongation according to Gonin-Hollwich, as compared with the classical retroposition of this muscle. In exotropia the authors recommend reinforcing operations only or in combination with a weakening operation of the rectus muscles. The gradual development of application of the technique of surgery of the hyperfunctional lower oblique muscle is in favour of treble partial myotomy (elongation). They operate paretic strabismus when the IIIrd, IVth, VIth nerve are affected and supranuclear paresis of the levators by a complex procedure incl. transposition operations of the functional muscles. The authors operate ocular torticollis after a careful analysis of the congenital nystagmus, using special techniques on the rectus and oblique muscles which adjust the position of the head and bulbs.
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PMID:[Surgical treatment of strabismus in children (a 12-year study)]. 139 35

BTX injection has been used for 11 years by 292 ophthalmologists in 8,854 patients aged three months to 90 years in a variety of eye muscle and eyelid disorders. No systemic toxic reaction has occurred, local complications are few, and visual loss has not occurred in any case. In blepharospasm and hemifacial spasm BTX appears to fill an important need, since no other drug is reliably effective and since surgical interventions have substantial side effects. Strabismus cases with active uveitis, hypotony, previous detachment surgery, active thyroid eye disease, and recent paralytic strabismus are often poor candidates for surgical intervention. Some patients in each of these categories were treated effectively and safely by BTX injection. Surgery is clearly the preferred treatment modality in large angle deviations, in chronic paralytic strabismus, in cases where diplopia for a month or two from injection would incapacitate the patient, in nystagmus, in oblique muscle disorders and A-V patterns, where muscles have been misplaced and where restrictions to alignment have been created by disease or prior surgery. Side by side comparisons of surgery and injection in congenital esotropia and in concomitant strabismus of 50 PD or less should result in further clarification of treatment choices as to effectiveness, side effects and cost. BTX is presently available only to clinical investigators using the drug under research protocols.
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PMID:Botulinum toxin therapy of eye muscle disorders. Safety and effectiveness. American Academy of Ophthalmology. 277 91

Smooth pursuit (SP) and saccades (SC) as well as nystagmus were recorded with electro-oculography in 21 healthy subjects with manifest non-paralytic strabismus. A normal SP function under binocular conditions could be recorded in 67% of the subjects and complementary monocular recordings increased the figure to 81%. The corresponding figure for the SC test was 38 and 67%, respectively. However, a minority of the subjects presented a normal test result under both binocular and monocular conditions. Spontaneous nystagmus and/or nystagmus after headshaking was present in 67%. These findings may indicate that subjects with strabismus have a combination of a 'subclinical' vestibular and oculomotor dysfunction.
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PMID:Oculomotor and nystagmus tests in subjects with strabismus. 812 82

One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic Congenital Fibrosis of the Extraocular Muscles type 3 (CFEOM3). Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently. Here, however, we report two novel de novo heterozygous TUBB3 amino acid substitutions, G71R and G98S, in four patients with both MCD and syndromic CFEOM3. These patients present with moderately severe CFEOM3, nystagmus, torticollis, and developmental delay, and have intellectual and social disabilities. Neuroimaging reveals defective cortical gyration, as well as hypoplasia or agenesis of the corpus callosum and anterior commissure, malformations of hippocampi, thalami, basal ganglia and cerebella, and brainstem and cranial nerve hypoplasia. These new TUBB3 substitutions meld the two previously distinct TUBB3-associated phenotypes, and implicate similar microtubule dysfunction underlying both.
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PMID:Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 2663 58