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Retinal Phenotyping of Inherited Retinal Diseases

Georgiou, Michalis; (2020) Retinal Phenotyping of Inherited Retinal Diseases. Doctoral thesis (Ph.D), UCL (University College London). Green open access

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Abstract

Inherited retinal diseases (IRD) are the leading cause of blindness in the working age population in England and Wales. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal landscape for establishing treatments for IRD, with the first approved gene therapy available now and the commencement of multiple therapy trials. It is of paramount significance to have robust natural history data, identify methods and criteria for patient stratification, and structural and functional outcomes for each genotype. The aim of this research was therefore to rigorously investigate the natural history with protocol-driven analysis of structural and functional data from molecularly confirmed subjects with IRD. Cohorts with IRD associated with eight genotypes were investigated in detail: CNGA3, CNGB3, GNAT2, PDE6C, ATF6, ABCA4, GUCY2D and CLN3. Different tools and approaches were employed for each genotype, guided by the gaps in the literature and the prospect of clinical trials. Metrics anticipated to be most sensitive to change were evaluated cross-sectionally, and where possible longitudinally; both (i) structural measures, including optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, and Adaptive Optics Scanning Light Ophthalmoscopy; and (ii) functional assessments, including visual acuity, contrast sensitivity, colour vision, static perimetry and microperimetry. Indices to quantify and investigate interocular symmetry, repeatability and reproducibility were also constructed. Associations between progression, age, baseline characteristics, and genotype were interrogated.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Retinal Phenotyping of Inherited Retinal Diseases
Event: UCL
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Copyright © The Author [year]. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) Licence (https://creativecommons.org/licenses/by-nc-nd/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. - Some third party copyright material has been removed from this e-thesis.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10098612
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