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Data analysis from ophthalmologic devices
Brož, Petr ; Hemzal, Dušan (referee) ; Kolář, Radim (advisor)
In the bechelor theses is a brief overview of anatomy, optic environment and the basic refractive errors of the eye. Listed below are the diagnostic techniques that the patient must undergo before cataract surgery (biometry, keratometry of the eye and subjective measure of visual acuity). The practical part consists of two surveys. In the first research are statistically compared (Wilcoxon paired test, Spearman's correlation coefficient) biometrics methods - acoustic and optical biometry. The second research is evaluated subjective level of uncorrected visual acuity before cataract surgery and after. At the end of this work are discussed and evaluated the results of both studies.
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Developmental disorders of the lens and anterior segment of the eye
Jedličková, Jana ; Ďuďáková, Ľubica (advisor) ; Šafka Brožková, Dana (referee) ; Cvekl, Ales (referee)
The anterior segment of the eye includes the eyelids, eyelashes, tear film, cornea, conjunctiva, iris, pupil, ciliary body, chamber angle, and lens. Cataracts and anterior segment dysgenesis are a highly heterogeneous group of diseases exhibiting all types of Mendelian inheritance. The aim of this thesis was molecular genetic analysis of 51 patients from 23 families with congenital and early onset cataracts and/or anterior segment dysgenesis, using a modern as well as conventional methods, such as next-generation sequencing, direct sequencing, bioinformatic and functional analyses including the use of artificial splicing vectors. We identified 24 causal variants in the coding, non-coding and regulatory regions of the PAX6, FTL, FOXC1, PITX2, FOXE3, and CHRDL1 genes. We confirmed the role of the n.37C>T variant in MIR204 in the development of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma. Splicing assay confirmed pathogenic effect of two mutations on pre-mRNA splicing of the PAX6 gene. Establishing molecular genetics diagnosis improves patient counselling and their relatives in terms of the prognosis and risk of developing secondary glaucoma Key words: molecular-genetic diagnosis, anterior segment dysgenesis, next-generation sequencing,...
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Characterization of mice with constitutively active Wnt/beta-catenin signaling pathway in lens
Antošová, Barbora ; Kozmik, Zbyněk (advisor) ; Pavlínková, Gabriela (referee)
Lens development and differentiation are strictly regulated processes. Various disturbances of these processes can lead to vision-limiting pathologies. The vertebrate lens is composed of epithelial cells and terminally differentiated fiber cells. Differentiation of fiber cells is connected with expression of fiber cell specific proteins (such as crystallins), cell cycle exit, and finally with the degradation of cell nucleus and organelles. Wnt/β-catenin signaling plays important roles during early eye development as well as later during the lens differentiation. To investigate the consequences of constitutive activation of Wnt/β-catenin signaling in lens fiber cells transgenic mouse strain, called CLEF, was created. Constitutive activation of Wnt/β-catenin signaling in fiber cells of CLEF mouse is achieved by transgenic protein CLEF that contains C-terminal activation domain of β-catenin fused to the amino terminus of full-length protein Lef1. The expression of CLEF transgene is under the control of αA-crystallin promoter. As a result of constitutive activation of Wnt/β-catenin signaling in fiber cells, adult CLEF mice develop cataracts and microphthalmia, and the morphology of adult mutant lenses is disrupted. Transgenic CLEF mRNA is expressed starting from E13.5 and by E16.5 transgenic CLEF protein is...
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Characterization of mice with constitutively active Wnt/beta-catenin signaling pathway in lens
Antošová, Barbora ; Kozmik, Zbyněk (advisor) ; Pavlínková, Gabriela (referee)
Lens development and differentiation are strictly regulated processes. Various disturbances of these processes can lead to vision-limiting pathologies. The vertebrate lens is composed of epithelial cells and terminally differentiated fiber cells. Differentiation of fiber cells is connected with expression of fiber cell specific proteins (such as crystallins), cell cycle exit, and finally with the degradation of cell nucleus and organelles. Wnt/β-catenin signaling plays important roles during early eye development as well as later during the lens differentiation. To investigate the consequences of constitutive activation of Wnt/β-catenin signaling in lens fiber cells transgenic mouse strain, called CLEF, was created. Constitutive activation of Wnt/β-catenin signaling in fiber cells of CLEF mouse is achieved by transgenic protein CLEF that contains C-terminal activation domain of β-catenin fused to the amino terminus of full-length protein Lef1. The expression of CLEF transgene is under the control of αA-crystallin promoter. As a result of constitutive activation of Wnt/β-catenin signaling in fiber cells, adult CLEF mice develop cataracts and microphthalmia, and the morphology of adult mutant lenses is disrupted. Transgenic CLEF mRNA is expressed starting from E13.5 and by E16.5 transgenic CLEF protein is...
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Genetic eye diseases in dogs
Šmejkalová, Barbora ; Hofmanová, Barbora (advisor)
Eye diseases in dogs are often very similar to humans eye disease. Eye diseases are becoming more common in pure breed of dogs, therefore it is important to take them into consideration, particularly when we are crossing the parent generation.
In the first part is explained in detail and illustrated anatomy of the eye, including images and photographs. In the next part, there are described various eye diseases, namely cataract, glaucoma, hereditary diseases of the retina, progressive retinal atrophy (PRA) and Collie Eye Anomaly (CEA). For each disease is described, how it is possible to diagnose the disease, how it progress, what is its connection with genetic and possible treatment alternatives. In closing there are tables and graphs showing the frequency of occurrence of a specific disease either from an overall perspective or from the perspective of individual breeds.
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Data analysis from ophthalmologic devices
Brož, Petr ; Hemzal, Dušan (referee) ; Kolář, Radim (advisor)
In the bechelor theses is a brief overview of anatomy, optic environment and the basic refractive errors of the eye. Listed below are the diagnostic techniques that the patient must undergo before cataract surgery (biometry, keratometry of the eye and subjective measure of visual acuity). The practical part consists of two surveys. In the first research are statistically compared (Wilcoxon paired test, Spearman's correlation coefficient) biometrics methods - acoustic and optical biometry. The second research is evaluated subjective level of uncorrected visual acuity before cataract surgery and after. At the end of this work are discussed and evaluated the results of both studies.
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PCR-based detection of hidden carriers of cataracts in dogs
FARKOVÁ, Barbora
The hereditary cataract is one of the most common eye disease in dogs. The expansion of this disease in the Staffordshire bullterrier breed has been so massive that in the Czech Republic was introduced the rule of mandatory testing of at least one of a breeding pair. This is a degenerative disease of the lens causing total blindness of the affected animal within three years. Since some time ago there are no more dogs affected by the disease in the Czech Republic, there are however still hidden carriers which need to be discovered to the complete extinction of the disease in the genome. The goal of this study was to test simple ways of collecting biological samples, try them in practice and to verify whether they are suitable for the DNA isolation and also to test an alternative method of molecular detection of this disease. In total there have been 23 buccal swabs collected from male and female Staffordshire Bullterrier examples. The detection of the hidden carriers of the hereditary cataract was carried out by PCR analysis with specific primers. The obtained amplicons were detected by both gel and chip electrophoresis and by using fragment analysis. This detection of the carriers was based on the presence of two amplicons (heterozygotes). I came to conclusion that to detect hidden carriers it is neccessary to use the fragment analysis because of the difference of only one base in the reference section of DNA. Neither gel nor chip electrophoresis does provide sufficiently high resolution and it is not possible to detect two fragments that differ only by one bp. As the most appropriate sampling method I have chosen the buccal smear by cytological brush followed by isolating the DNA by Chelex with purification of the sample subsequently.
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Nursing care of patients with cataract
VESELÁ, Markéta
This Bachelor´s thesis focuses on caring for cataract patients. Cataract is one of the leading causes of blindness in the world and the surgery for its correction is the most common surgery in the developed countries. 80 % of all that people perceive comes to them through their eyes; that´s why deteorating vision may mean limited self-sufficiency or even a complete loss of thereof; patients may then find it difficult to look after themselves. This Bachelor´s thesis consists of both theoretical and practical components. The theoretical part is concerned with cataract as a disease; it establishes the definition of this illness, its kinds, diagnostics and treatment. A substantial part focuses on nursing care for cataracts, defining concepts such as self-sufficiency and its evaluation and assessing the functional degree of self-care. The practical part consists of a choice method of a quantitative and qualitative research. The quantitative research uses the method of a questionnaire for patients; a partly-structured interview with nurses was used as a means to achieve the aim of the qualitative research. The interviews, which took place in the Ophthalmology department in the hospital in České Budějovice and the Lexum European Eye Clinic are included in this thesis. This work had established two aims. The first one was to find out the specifics of nursing care for cataract patients. This aim was aided by 2 research questions. The first of them was: what are the specifics of nursing care for cataract patients? The second one was: do the nurses know what the specifics of nursing care for cataract patients are? The second main aim was to find out the differences in the patients? care for themselves before and after getting surgery for cataract. This aim was supplemented by Hypothesis 1: after having surgery to correct cataract, patients show higher level of self-sufficiency than before the operation. Hypothesis 1 was confirmed on the basis of the acquired results. In the case of a successful defense of this Bachelor´s thesis, the results will be published in a medical journal.
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