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At least 127 records · Page 7Linked to original sources
PubMed1977

Mosaic 45,x/47,xy,+18.

A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.

Abnormalities, Multiple↗
PubMed2003

Beta 2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma.

OBJECTIVE: It has been shown that arginine to glycine (Arg16Gly), glutamine to glutamic acid (Gln27Glu) and threonine to isoleucine (Thr164Ile) exchanges in codons 16, 27 and 164, respectively, of the beta 2-adrenergic receptor (B2AR) gene significantly alter receptor function. As B2ARs are located on the afferent blood vessels supplying the ciliary body and trabecular meshwork cells, which control aqueous humour dynamics, polymorphisms of B2AR may be involved in the pathophysiology of certain eye diseases, such as glaucoma. Therefore, the aim of the present study was to investigate the distribution of B2AR polymorphisms in patients with primary congenital and primary open angle glaucoma. METHODS: A group of 30 patients with primary congenital glaucoma, 105 with primary open angle glaucoma and 92 control patients were analysed for the Arg16Gly, Gln27Glu, and Thr164IIe polymorphisms of the B2AR by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The allelic frequencies of Gly16, Glu27 and IIe164 variant alleles were 66.7, 38.3 and 3.3% in patients with congenital glaucoma, 59.5, 31.0 and 1.0% with glaucoma, and 54.9, 26.6 and 0.5% in controls, respectively. Although statistically non-significant, the frequencies of variant alleles were slightly higher in both groups of the glaucoma patients. CONCLUSIONS: These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma. However, further studies are needed to understand the role of B2AR polymorphisms in patients with eye disease.

Child↗
PubMed2007

Long-term results of surgery in childhood glaucoma.

PURPOSE: The aim of this study is to assess the functional results and morphological parameters in children surgically treated for glaucoma. METHODS: Data from 43 patients and 68 eyes who were operated in our department between 1990 and 2002 were collected. This retrospective trial included primary congenital glaucoma (n=36), and secondary glaucoma (n=7) in Rieger-Axenfeld syndrome and Sturge Weber syndrome. Intraocular pressure (IOP), axial length of the eyeball, visual acuity, refractive errors and orthoptic status were analysed. RESULTS: The age of patients at the first surgery was 6.0 +/- 5.3 months (range 0.7 to 28.0 months). The mean period of follow-up was 57.3 +/- 36.8 months (6.0-161.0). The mean number of surgical procedures performed on one eye was 2.5 +/- 2.4 procedures (1-11). The mean IOP before the first surgery was 31.0 +/- 7.9 mmHg (17.5-52.0), and was 15.0 +/- 3.9 mmHg (7.0-28.0) at the last visit. 49 eyes (72.1%) did not need any further medical treatment after the last surgical procedure. The IOP was 18 mmHg or lower without medication in 29 eyes (42.6%) after just one surgical procedure (21 trabeculotomy, 8 combined trabeculotomy/trabeculectomy with or without mitomycin-C). At the first examination, the mean axial length of the eyeball was 22.6 +/- 1.8 mm (the mean normal value at this age is 20.3 +/- 0.7 mm), and was 24.4 +/- 2.0 mm at the last visit (the mean normal value at this age is 22.2 +/- 0.6 mm). The best corrected visual acuity at the last visit was 0.25 +/- 4.6 lines; the normal range of visual acuity at this age is from 0.4 +/- 4.0 lines to 0.8 +/- 3.0 lines. Visual acuity was 0.32 or more in 53.0% of the eyes. Visual acuity was lower than 0.1 in only 15.2% of the eyes. Myopia was present in 57.4% of the eyes with a mean spherical equivalent of -6.1 +/-3.9 dioptres. 15 patients (34.9%) developed strabismus. 22 patients (51.2%) were treated with part-time occlusion. Binocular function as assessed with the Lang-1 test was positive in 17 of 30 patients (56.7%). CONCLUSIONS: Although a good long-term IOP-control can often be achieved in childhood glaucoma, the visual acuity remains below the normal range in most cases despite close orthoptic follow-up.

Alkylating Agents↗