Central European Journal of Medicine

, Volume 9, Issue 5, pp 680–686 | Cite as

The occurrence of ocular diseases in patients with Turner syndrome

  • Renata BrunnerovaEmail author
  • Jan Lebl
Research Article


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 45, X karyotype Chromosomal mosaicism Refractive errors Colour vision deficiency Ptosis Strabismus Amblyopia Epicanthus 


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Copyright information

© Versita Warsaw and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of Ophthalmology Faculty Hospital Kralovske VinohradyPrague 10Czech Republic
  2. 2.Department of Pediatrics Faculty Hospital MotolPrague 5Czech Republic

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