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Inherited chorioretinal dystrophies a textbook and atlas /

This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorde...

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Other Authors: Puech, Bernard,, De Laey, J. J.,, Holder, Graham E.,, SpringerLink (Online Service)
Format: eBook
Language: English
Published: Heidelberg : Springer, 2014.
Physical Description: 1 online resource (xv, 488 pages) : illustrations (some color)
Subjects:
Retina -- Diseases -- Genetic aspects.
Retina -- Diseases -- Atlases.
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245 0 0 |a Inherited chorioretinal dystrophies :  |b a textbook and atlas /  |c Bernard Puech, Jean-Jacques De Laey, Graham E. Holder, editors. 
264 1 |a Heidelberg :  |b Springer,  |c 2014. 
300 |a 1 online resource (xv, 488 pages) :  |b illustrations (some color) 
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504 |a Includes bibliographical references and index. 
505 0 |a Introduction to Molecular Genetics and Genetic Testing for Retinal Dystrophies -- Electrophysiological Testing -- Dark Adaptation -- Fluorescein Angiography -- Indocyanine Green Angiography -- Fundus Autofluorescence Imaging in Retinal Dystrophies -- Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies -- Inherited Stationary Disorders of the Retina -- Retinitis Pigmentosa and Allied Disorders -- Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy -- Retinitis Punctata Albescens -- Usher Syndromes -- Cone and Cone-Rod Dystrophies -- Enhanced S-Cone Syndrome -- Chorioretinopathies: Choroideraemia and Gyrate Atrophy -- Late-Onset Retinal Dystrophy (LORD) -- Stargardt Disease -- The Bestrophinopathies -- Retinal Dystrophies Associated with the PRPH2 Gene -- Alström Syndrome -- Bardet-Biedl Syndrome -- Cohen Syndrome -- Juvenile Neuronal Ceroid Lipofuscinoses (JNCL) -- Adult Refsum Disease (ARD) -- Abetalipoproteinemia -- LCHAD Deficiency -- Jalili Syndrome -- Spinocerebellar Ataxia 7 -- Dominant Cystoid Macular Dystrophy -- Autosomal Dominant Stargardt-Like Macular Dystrophy (ELOVL4) -- Spastic Paraplegia and Retinal Degeneration: Kjellin Syndrome -- Autosomal Dominant Drusen -- Cuticular Drusen -- Extensive Macular Atrophy with Pseudodrusen-Like Appearance -- Congenital Hypotrichosis with Juvenile Macular Dystrophy -- Mitochondrial Retinopathies -- Sorsby Fundus Dystrophy -- Bietti Crystalline Corneoretinal Dystrophy -- Cystinosis -- Primary Oxalosis -- Alport Syndrome -- X-Linked Retinoschisis -- Paramacular Choriocapillaris Atrophy -- Exudative Vitreoretinopathy -- Stickler Syndrome -- Wagner Syndrome -- Incontinentia Pigmenti Type II (IP2) -- Ganglion Cell Diseases -- Pseudoxanthoma Elasticum -- Aicardi Syndrome -- Microcephaly and Chorioretinopathy With or Without Mental Retardation and Lymphedema -- Alagille Syndrome -- Future Therapies for Retinitis Pigmentosa. 
588 0 |a Online resource; title from PDF title page (SpringerLink, viewed July 28, 2014). 
520 |a This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas. 
546 |a English. 
650 0 |a Retina  |x Diseases  |x Genetic aspects. 
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700 1 |a De Laey, J. J.,  |e editor. 
700 1 |a Holder, Graham E.,  |e editor. 
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