Anikina, Evgenia V.;
(2025)
A Longitudinal Study Investigating Retinal Function in RPGR-Associated Retinitis Pigmentosa.
Doctoral thesis (M.D(Res)), UCL (University College London).
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Abstract
Inherited Retinal Disease (IRD) is currently the leading cause of blindness certification in the working age population (16-64 years) in many developed countries, including England and Wales and the second commonest in childhood[1, 2]. A large proportion of IRDs is made up from the retinitis pigmentosa (RP) syndromes, which affect approximately 1 in 3,500 individuals[3]. Of these, X-linked retinitis pigmentosa (XLRP) is one of the most severe forms[4]. RPGR gene variants are the main cause of XLRP, accounting for 70-80% of cases[5]. This thesis begins with a review of retinal anatomy and retinal function, with reference to microstructure and the phototransduction cascade. This provides a reference framework for an overview of inherited retinal disease, which has its effects on these systems. A summary of retinal structural phenotyping techniques is presented, followed by an in-depth review of retinal functional deep phenotyping techniques. This serves as a knowledge base for selecting appropriate assessments for XLRP characterisation. The main work of the thesis focuses on the natural history study of the RPGR cohort of patients, as registered in the Moorfields Inherited Eye Disease Database. All subjects underwent molecular confirmation of RPGR pathological variants and were consequently enrolled into a protocol-driven study, which encompassed regular measurement of multiple visual functional and structural metrics. An in-depth analysis is presented of the results of static perimetry and microperimetry assessments, both in terms of baseline and progression measures over the duration of the study. Novel approaches to the characterisation of visual field loss in XLRP are explored and a protocol and test grid developed for the use on a dark-adapted chromatic perimeter. The work on advancing the knowledge of XLRP conducted during this thesis, as well as the work of multiple other groups is summarised and promising future directions highlighted.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | M.D(Res) |
| Title: | A Longitudinal Study Investigating Retinal Function in RPGR-Associated Retinitis Pigmentosa |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2025. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/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. |
| 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/10203461 |
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