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Characterization of the eye phenotype in children with Alport syndrome

dc.contributor.advisorGroß, Oliver Prof. Dr.
dc.contributor.authorGroßmann, Clara Berenice Juliane
dc.titleCharacterization of the eye phenotype in children with Alport syndromede
dc.contributor.refereeGroß, Oliver Prof. Dr.
dc.description.abstractengThe objective of this dissertation was to characterize the ocular changes in pediatric Alport patients of the EARLY PRO-TECT Alport trial. The EARLY PRO-TECT Alport trial examined the safety and efficacy of angiotensin converting enzyme inhibitors as an early therapeutic option for pediatric Alport patients. Alport syndrome leads to renal insufficiency eventually ending in end stage kidney disease. Untreated patients get renal insufficiency early, requiring kidney replacement methods such as dialysis at the age of about 20 or a renal transplant. Other common symptoms of Alport Syndrome involve auricular and ocular changes. Medical reports and worksheets were examined for ocular parameters such as astigmatism, refractive power, and Alport specific changes. The kidney parameters Alport stages and gene variant were included in the data collection to observe the relation to ocular changes. A statistical evaluation supported the processing of data to relate them to the patient collective. The results of the EARLY PRO-TECT Alport trial evaluation showed hyperopia and astigmatism in most patients. Macular thinning, macular pigment, and vitreous body degeneration were found in 11% (n = 5). These patients were between seven and ten years old, except one patient who was 20 years old. They were in Alport stages I or II and had a gene variant with a medium or severe course of the kidney disease. Other studies observed higher percentages of the Alport specific changes macular thinning, macular pigment, and vitreous body degeneration than the EARLY PRO-TECT Alport trial. In addition, the studies found lenticonus and retinopathy. The literature mainly focused on adults while the EARLY PRO-TECT Alport trial examined a pediatric population. The EARLY PRO-TECT Alport trial and the other studies differed in the examination methods and data such as patient age, patient numbers, ocular parameters, and Alport stages. The results of the EARLY PRO-TECT Alport trial showed that it is beneficial to examine children more specifically and that there should be minimum requirements to examine children more precisely using examination methods such as optical coherence tomography, fluorescence angiography, and retinal photography. A routine ocular examination is not seen to be sufficient to detect Alport specific ocular changes. Therefore, as an instruction to the ophthalmologist, an Alport eye pass was developed to perform a more precise
dc.contributor.coRefereeFeltgen, Nicolas Prof. Dr.
dc.subject.engAlport syndromede
dc.subject.engOcular changes Alport syndromede
dc.subject.engMacular pigment Alport syndromede
dc.subject.engMacular thinning Alport syndromede
dc.subject.engVitreous body degeneration Alport syndromede
dc.subject.engEARLY PRO-TECT Alport Trialde
dc.affiliation.instituteMedizinische Fakultätde
dc.subject.gokfull:Innere Medizin - Allgemein- und Gesamtdarstellungen (PPN619875747)de

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