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Inherited Chorioretinal Dystrophies

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Cover of 'Inherited Chorioretinal Dystrophies'

Table of Contents

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    Book Overview
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    Chapter 1 Introduction to Molecular Genetics and Genetic Testing for Retinal Dystrophies
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    Chapter 2 Electrophysiological Testing
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    Chapter 3 Dark Adaptation
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    Chapter 4 Fluorescein Angiography
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    Chapter 5 Indocyanine Green Angiography
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    Chapter 6 Fundus Autofluorescence Imaging in Retinal Dystrophies
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    Chapter 7 Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies
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    Chapter 8 Inherited Stationary Disorders of the Retina
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    Chapter 9 Retinitis Pigmentosa and Allied Disorders
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    Chapter 10 Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
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    Chapter 11 Retinitis Punctata Albescens
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    Chapter 12 Usher Syndromes
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    Chapter 13 Cone and Cone–Rod Dystrophies
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    Chapter 14 Enhanced S-Cone Syndrome
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    Chapter 15 Chorioretinopathies: Choroideraemia and Gyrate Atrophy
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    Chapter 16 Late-Onset Retinal Dystrophy (LORD)
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    Chapter 17 Stargardt Disease
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    Chapter 18 The Bestrophinopathies
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    Chapter 19 Retinal Dystrophies Associated with the PRPH2 Gene
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    Chapter 20 Alström Syndrome
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    Chapter 21 Bardet-Biedl Syndrome
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    Chapter 22 Cohen Syndrome
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    Chapter 23 Juvenile Neuronal Ceroid Lipofuscinoses (JNCL)
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    Chapter 24 Adult Refsum Disease (ARD)
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    Chapter 25 Abetalipoproteinemia
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    Chapter 26 LCHAD Deficiency
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    Chapter 27 Jalili Syndrome
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    Chapter 28 Spinocerebellar Ataxia 7
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    Chapter 29 Dominant Cystoid Macular Dystrophy
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    Chapter 30 Autosomal Dominant Stargardt-Like Macular Dystrophy (ELOVL4)
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    Chapter 31 Spastic Paraplegia and Retinal Degeneration: Kjellin Syndrome
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    Chapter 32 Autosomal Dominant Drusen
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    Chapter 33 Cuticular Drusen
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    Chapter 34 Extensive Macular Atrophy with Pseudodrusen-Like Appearance
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    Chapter 35 Congenital Hypotrichosis with Juvenile Macular Dystrophy
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    Chapter 36 Mitochondrial Retinopathies
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    Chapter 37 Sorsby Fundus Dystrophy
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    Chapter 38 Bietti Crystalline Corneoretinal Dystrophy
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    Chapter 39 Cystinosis
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    Chapter 40 Primary Oxalosis
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    Chapter 41 Alport Syndrome
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    Chapter 42 X-Linked Retinoschisis
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    Chapter 43 Paramacular Choriocapillaris Atrophy
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    Chapter 44 Exudative Vitreoretinopathy
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    Chapter 45 Stickler Syndrome
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    Chapter 46 Wagner Syndrome
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    Chapter 47 Incontinentia Pigmenti Type II (IP2)
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    Chapter 48 Ganglion Cell Diseases
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    Chapter 49 Pseudoxanthoma Elasticum
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    Chapter 50 Aicardi Syndrome
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    Chapter 51 Microcephaly and Chorioretinopathy With or Without Mental Retardation and Lymphedema
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    Chapter 52 Alagille Syndrome
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    Chapter 53 Future Therapies for Retinitis Pigmentosa
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    Chapter 54 Erratum
Overall attention for this book and its chapters
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Citations

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19 Mendeley
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Title
Inherited Chorioretinal Dystrophies
Published by
Springer Berlin Heidelberg, July 2014
DOI 10.1007/978-3-540-69466-3
ISBNs
978-3-54-069464-9, 978-3-54-069466-3
Editors

Puech, Bernard, De Laey, Jean-Jacques, Holder, Graham E.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Finland 1 5%
Italy 1 5%
Unknown 17 89%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 26%
Student > Bachelor 3 16%
Student > Doctoral Student 2 11%
Student > Ph. D. Student 2 11%
Student > Master 2 11%
Other 2 11%
Unknown 3 16%
Readers by discipline Count As %
Medicine and Dentistry 7 37%
Biochemistry, Genetics and Molecular Biology 3 16%
Agricultural and Biological Sciences 3 16%
Engineering 1 5%
Unknown 5 26%