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Statements

Subject Item
n2:RIV%2F00216208%3A11120%2F14%3A43908816%21RIV15-MSM-11120___
rdf:type
n4:Vysledek skos:Concept
dcterms:description
Turner syndrome is among the most common chromosomal aberrations. It is caused by a missing or anomaly of one X chromosome, alternatively a chromosomal mosaicism. It is often connected with a more frequent occurrence of some ocular diseases. In our study 81 girls and women with Turner syndrome from the age of 5 to 23 years old were examined. The occurrence of ocular diseases and their possible connection with karyotype was the main focus of our attention. Myopia had the highest incidence in these girls, further there were hyperopia, epicanthus, colour vision deficiency, amblyopia, strabismus and ptosis. The occurrence of colour vision deficiency was higher than in the general population where it differs in sexes. The occurrence of strabismus and ptosis was higher than in the general population. The total range of refractive errors was slightly higher than in the general population, with a different distribution according to karyotype. Hyperopia was recorded more often at the 45,X karyotype, namely 28 %, while for chromosomal mosaicism it was only in 18%. For myopia the ratio was reversed - chromosomal mosaicism in 31% and in 45,X karyotype in 26 %.In total, while comparing individual eye defects incidence in 45,X karyotype and chromosomal mosaicism, similar findings were recorded. These results were also assessed with the help of statistics Turner syndrome is among the most common chromosomal aberrations. It is caused by a missing or anomaly of one X chromosome, alternatively a chromosomal mosaicism. It is often connected with a more frequent occurrence of some ocular diseases. In our study 81 girls and women with Turner syndrome from the age of 5 to 23 years old were examined. The occurrence of ocular diseases and their possible connection with karyotype was the main focus of our attention. Myopia had the highest incidence in these girls, further there were hyperopia, epicanthus, colour vision deficiency, amblyopia, strabismus and ptosis. The occurrence of colour vision deficiency was higher than in the general population where it differs in sexes. The occurrence of strabismus and ptosis was higher than in the general population. The total range of refractive errors was slightly higher than in the general population, with a different distribution according to karyotype. Hyperopia was recorded more often at the 45,X karyotype, namely 28 %, while for chromosomal mosaicism it was only in 18%. For myopia the ratio was reversed - chromosomal mosaicism in 31% and in 45,X karyotype in 26 %.In total, while comparing individual eye defects incidence in 45,X karyotype and chromosomal mosaicism, similar findings were recorded. These results were also assessed with the help of statistics
dcterms:title
The occurrence of ocular diseases in patients with Turner syndrome The occurrence of ocular diseases in patients with Turner syndrome
skos:prefLabel
The occurrence of ocular diseases in patients with Turner syndrome The occurrence of ocular diseases in patients with Turner syndrome
skos:notation
RIV/00216208:11120/14:43908816!RIV15-MSM-11120___
n5:aktivita
n14:I n14:V
n5:aktivity
I, V
n5:cisloPeriodika
5
n5:dodaniDat
n15:2015
n5:domaciTvurceVysledku
n16:6189156
n5:druhVysledku
n13:J
n5:duvernostUdaju
n18:S
n5:entitaPredkladatele
n17:predkladatel
n5:idSjednocenehoVysledku
33779
n5:idVysledku
RIV/00216208:11120/14:43908816
n5:jazykVysledku
n10:eng
n5:klicovaSlova
Turner syndrome; Strabismus; Refractive errors; Ptosis; Epicanthus; Colour vision deficiency; Chromosomal mosaicism; Amblyopia; X karyotype
n5:klicoveSlovo
n7:Amblyopia n7:Epicanthus n7:Ptosis n7:Strabismus n7:Turner%20syndrome n7:Colour%20vision%20deficiency n7:Refractive%20errors n7:X%20karyotype n7:Chromosomal%20mosaicism
n5:kodStatuVydavatele
PL - Polská republika
n5:kontrolniKodProRIV
[F8B7D5E18E23]
n5:nazevZdroje
Central European Journal of Medicine
n5:obor
n9:FF
n5:pocetDomacichTvurcuVysledku
1
n5:pocetTvurcuVysledku
2
n5:rokUplatneniVysledku
n15:2014
n5:svazekPeriodika
9
n5:tvurceVysledku
Brunnerová, Renáta
n5:wos
000339938100013
s:issn
1895-1058
s:numberOfPages
7
n6:doi
10.2478/s11536-013-0323-x
n11:organizacniJednotka
11120