|
|
The occurence of ocular disorders in patients with Turner syndrome
Brunnerová, Renáta ; Raiskup, Frederik (advisor) ; Baráková, Drahomíra (referee) ; Autrata, Rudolf (referee)
The occurrence of ocular disorders in patients with Turner syndrome Turner syndrome is among the most common chromosomal aberrations. It is caused by a missing or structural 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 repeatedly examined. The occurrence of ocular diseases and their possible connection with karyotype was the main focus of our attention. Myopia (29 %) had the highest incidence in these girls, further there were hyperopia (24 %), epicanthus (20 %), colour vision deficiency (17 %), amblyopia (12 %), strabismus (10 %) and ptosis (5 %). Colour vision deficiency was defined as protanopia in 8.5 %, deuteranopia in 3.4 % and tritanopia in 5.2 %. The occurrence of colour vision deficiency was higher than in the general population where it differs in sexes. It is more often found in men. It is connected with the gene location for the red and green photo pigment which is localized on the long arm of the X chromosome. 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...
|
|
| |
|
|
The occurence of ocular disorders in patients with Turner syndrome
Brunnerová, Renáta ; Raiskup, Frederik (advisor) ; Baráková, Drahomíra (referee) ; Autrata, Rudolf (referee)
The occurrence of ocular disorders in patients with Turner syndrome Turner syndrome is among the most common chromosomal aberrations. It is caused by a missing or structural 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 repeatedly examined. The occurrence of ocular diseases and their possible connection with karyotype was the main focus of our attention. Myopia (29 %) had the highest incidence in these girls, further there were hyperopia (24 %), epicanthus (20 %), colour vision deficiency (17 %), amblyopia (12 %), strabismus (10 %) and ptosis (5 %). Colour vision deficiency was defined as protanopia in 8.5 %, deuteranopia in 3.4 % and tritanopia in 5.2 %. The occurrence of colour vision deficiency was higher than in the general population where it differs in sexes. It is more often found in men. It is connected with the gene location for the red and green photo pigment which is localized on the long arm of the X chromosome. 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...
|
guest ::
