Cross-sectional phenotypical differentiation of major blinding eye diseases in Europe [Elektronische Ressource] : inherited retinal dystrophies in focus / vorgelegt von Elena Prokofyeva
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Cross-sectional phenotypical differentiation of major blinding eye diseases in Europe [Elektronische Ressource] : inherited retinal dystrophies in focus / vorgelegt von Elena Prokofyeva

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151 pages
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Aus dem Department für Augenheilkunde der Universität Tübingen Forschungsinstitut für Augenheilkunde Direktor: Professor Dr. E. Zrenner Cross-sectional Phenotypical Differentiation of Major Blinding Eye Diseases in Europe: Inherited Retinal Dystrophies in Focus Inaugural-Dissertation zur Erlangung des Doktorgrades der Medizin der Medizinischen Fakultät der Eberhard Karls Universität zu Tübingen vorgelegt von Elena Prokofyeva aus Leningrad, UdSSR 2011 Dekan: Professor Dr. I. B. Autenrieth 1. Berichterstatter: Professor Dr. E. Zrenner 2. Berichterstatter: Privatdozentin Dr. D. Besch I would like to dedicate this Doctoral dissertation to my grandmother, Dr. Ida Balyasnikova, whose enthusiasm led me into the world of science. Contents Abbreviations list ..................................................................................................... iv I Introduction: ........ 1 I.1 Epidemiology of major eye diseases leading to blindness in Europe: How much do we know? ....................................................................................... 1 I.2 The pressing need for the estimation of age of disease onset in monogenic retinal dystrophies with predominantly central and peripheral involvement. .......................................................................................................... 7 I.

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Publié par
Publié le 01 janvier 2011
Nombre de lectures 8
Langue English
Poids de l'ouvrage 3 Mo

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Aus dem Department für Augenheilkunde der Universität
Tübingen
Forschungsinstitut für Augenheilkunde
Direktor: Professor Dr. E. Zrenner


Cross-sectional Phenotypical Differentiation of Major
Blinding Eye Diseases in Europe: Inherited Retinal
Dystrophies in Focus



Inaugural-Dissertation
zur Erlangung des Doktorgrades
der Medizin

der Medizinischen Fakultät
der Eberhard Karls Universität
zu Tübingen
vorgelegt von
Elena Prokofyeva
aus
Leningrad, UdSSR
2011
















Dekan: Professor Dr. I. B. Autenrieth

1. Berichterstatter: Professor Dr. E. Zrenner
2. Berichterstatter: Privatdozentin Dr. D. Besch












I would like to dedicate this Doctoral dissertation to my grandmother, Dr. Ida
Balyasnikova, whose enthusiasm led me into the world of science.





Contents
Abbreviations list ..................................................................................................... iv
I Introduction: ........ 1
I.1 Epidemiology of major eye diseases leading to blindness in Europe:
How much do we know? ....................................................................................... 1
I.2 The pressing need for the estimation of age of disease onset in
monogenic retinal dystrophies with predominantly central and peripheral
involvement. .......................................................................................................... 7
I.3 Main visual symptoms onset and special clinical signs of the
electrophysiology of the visual system in a variety of IRD..................................... 9
I.4 Visual-Related Quality of Life Assessment in IRD patients. ...................... 10
II Materials and Methods: .................................................................................... 13
II.1 Search strategies for the systematic literature review on the
epidemiology of inherited retinal dystrophies in Europe. ..................................... 13
II. 2 Retrospective, cross-sectional study on the estimation of disease
onset in monogenic retinal dystrophies. .............................................................. 15
II.2.1 Data collection ....................................................... 15
II.2.2 Inclusion and exclusion criteria .............................................................. 15
II.2.3 Data management ................................................. 15
II.3 Comparison of the pattern of the visual symptoms onset in a variety of
IRD. 17
II.3.1 Inclusion criteria and exclusion criteria .................................................. 17
II.3.2 Data collection using Ophthabase ......................... 17

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II.3.3 Data management ................................................................................. 18
II.4 Study on special signs in the electrophysiology of IRD. ................................ 19
II.4.1 The flow of the study .............................................................................. 19
II.4.2 Data collection ....................... 21
II.4.3 Data management ................................................................................. 21
II.5 Visual-Related Quality of life assessment in a variety of IRD. ................... 22
II.5.1 Data collection ....................................................................................... 22
II.5.2 Data management ..................... 23
III Results: .............................................................................................................. 25
III.1 Epidemiology of inherited retinal dystrophies in Europe. .......................... 25
III.2 An epidemiological approach for the estimation of disease onset in
Central Europe in central and peripheral monogenic retinal dystrophies. ........... 27
III.3 Pattern of Visual Symptoms Onset in Inherited Retinal Dystrophies. ........ 43
III.3.1 General information about the study population. ...................................... 43
III.3.2 Comparison of the pattern of the main visual symptoms onset in a
variety of IRD. .................................................................... 46
III.4 Special Signs in the Electrophysiology of the Visual System in
Inherited Retinal Dystrophies. ............................................................................. 54
III.4.1 Quantitative assessment of the full-field and mfERG parameters
and their comparison between a variety of IRD and normal values. .................. 54
III.4.2 Qualitative assessment of the full-field and mfERG parameters and
their comparison between the variety of IRD types. ........................................... 65

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III.4.3 mfERG in a variety of inherited retinal dystrophies. ............................... 74
III.5 Visual-related quality of life in patients with inherited retinal
dystrophies - a baseline for assessing clinical trial efficacy ................................ 82
III.5.1 Visual-Related Quality of life in the IRD patient population .................... 85
III.5.2 Visual-Related Quality of life in a variety of rare IRD. ............................ 85
III.5.3 The relation of the VRQL and clinical data. ........................................... 88
IV Discussion ........................................................................... 91
Appendix 1. Comparison of full-field ERG values between different types
of IRD and with normal values ............................................. 113
Appendix 2. Comparison of mfERG values between different types of IRD
and with normal values ......................................................................................... 116
Bibliography .......................................................................................................... 117
Acknowledgements ............................... 134
Curriculum Vitae .................................................................................................... 136








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Abbreviations list
ARMD .............................................................. age-related macular degeneration
BBD .................................................. Bardet-Biedl syndrome
BCVA ........ best corrected visual acuity
CACD ............................................................. central areolar choroidal dystrophy
CI ............................................................ confidence interval
CD ................................ cone dystrophy
CHRD ............................................................. choroideremia
CHR2 ......................................................... channelrodopsin
CRD ....................... cone-rod dystrophy
CSNB .......................................................... congenital stationary night blindness
ERG ........................................................ elecroretinogramm
ICD ........................... International classification of diseases
logMAR ................................ log minimal angle of resolution
IOP ....................................................... intra ocular pressure
IRD ............ inherited retinal dystrophies
LCA ......................................... Leber Congenital Amaurosis
MD ........................................................... macular dystrophy
mfERG ......multifocal electroretinogram
NEI-VFQ-25 .................. the National Eye Institute Visual Function Questionnaire
NIDDM .................................................. non-insulin-dependent diabetes mellitus
Pub-Med ................................................... Medline database
QALY ............ quality adjusted life years
RP .......................................................................................... retinitis pigmentosa
RP-SIM ............................... RP-simplex
RP-NSIH.................................................................. RP non-specified inheritance
STD .......................... Stargardt disease

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USH I ................................................................................ Usher syndrome type I
USH II .............. Usher syndrome type II
VA .................................... visual acuity
VF ......................................................................... visual field
VRQL ......... visual-related quality of life






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