Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-three patients (20 female and 13 male patients aged 13 to 52 years) with myotonic dystrophy (MyD) were studied. Ophthalmologic examination included tonography, electroretinography (ERG), and fluorescein angiography. Thirty patients had bilateral cataracts of the subcapsular type, two patients had aphakia in both eyes, and one patient had clear lenses. Hypotonia (intraocular pressure, less than or equal to 10 mm Hg) was a common finding in 19 of 66 eyes. The mean IOP was 11.8 mm Hg for the whole series and the mean outflow facility was c = 0.34 cu mm/min. Focal signs of retinouveal affection were present in nine patients. Clinically, they appeared as acquired lesions affecting the retina, pigment epithelium, and choroid. One patient was found to have an outburnt panuveitis. The ERG was normal in 11 patients, subnormal in five patients, and isoelectric in four patients. An extinguished ERG did not correlate to clinical findings of known hereditary retinal or choroidal dystrophies. The ophthalmologic findings may be explained by a primary defect related to the cell membrane.
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PMID:Ocular findings in myotonic dystrophy. 712 55

The authors evaluate the results of preoperative 5-minute administration of 5-fluorouracil (5-FU), 50 mg/ml, during trabeculectomy on 11 high risk eyes of children with primary and secondary glaucoma. The mean age of the patients was 7.3 years, the average follow-up period 8.9 months (6-12 months). The intraocular pressure (i.o.p) of 11 eyes before surgery varied between 23 and 46 torr, average 31.5 torr, after treatment it was 13 to 28 torr, average 18.4 torr. The mean drop of IOP was 41.6%. In 7 eyes during the last assessment of IOP < 21 torr with a drop of more than 30%. The remaining 4 eyes have a was IOP between 25 and 28 torr with a reduction of 19-39%. Serious postoperative complications comprised four times marked hypotonia with a shallow anterior chamber, twice choroidal ablation and once macular oedema associated with transient deterioration of vision. In view of the limited therapeutic possibilities of high risk types of glaucoma in children postoperative administration of 5-FU is a promising alternative for the reduction of IOP.
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PMID:[Peroperative administration of 5-fluorouracil during trabeculectomy in complicated glaucoma in children]. 962 46