Universität Tübingen
Cross-sectional Phenotypical Differentiation of Major Blinding Eye Diseases in Europe: Inherited Retinal Dystrophies in Focus
Abstract
This dissertation includes the most recent systematic literature meta-analysis on the epidemiology of inherited retinal degenerations (IRD) in Europe. Very few studies on the epidemiology of retinitis pigmentosa (RP) are nation-wide and population-based. Existing studies address only the most frequent forms of inherited retinal dystrophies (IRD) and do not provide data on prevalence and incidence of individual eye diseases. Only few studies deal with the onset and progression of IRD and none compares clinical electrophysiological data of different IRD types. This shortcoming is addressed in a chapter that describes an epidemiological approach for estimating age of disease onset in central and peripheral IRD. Interestingly a relatively high number of patients in both groups retained quite good visual acuity. An age for optimal therapeutic intervention was defined. Moreover the pattern of the onset of major visual symptoms in a variety of IRD was investigated, providing for the first time such a comprehensive analysis. It was shown that the pattern of major visual symptoms onset can provide an extra cue for early differential diagnosis of IRD. Moreover severe loss of visual acuity in patients with cone-rod dystrophies (CRD) in combination with mixed visual field defects can lead to early disability and requires special attention. This dissertation also includes a study of particular clinical signs of the visual system in IRD. Multifocal (mf) and full-field electroretinogram (ERG) of normal subjects is compared with those obtained in IRD. A further chapter on visual-related quality of life (VRQL) in patients with RP includes the assessment of VRQL change in the IRD population as a whole, as well as in eleven rare IRD types, which has not been performed previously by others. It was also possible to reveal differences between the VRQL changes in different types of IRD, which should be considered when testing new treatments. This epidemiological approach can be applied in clinical practice for differential diagnosis between central and peripheral IRD, as well as for prognosis estimation and selection of treatment strategies. The results described here will help to properly inform researchers, politicians, and decision makers about the current state of the epidemiology of IRD in Europe and to stimulate further multi-centre population-based studies.
Author and committee
dc:creator, dc:contributor.*- Author
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- Prokofyeva, Elena
Identifiers
dc:identifier.*- Identifier
- hdl:10900/45835