| Description |
1 online resource (xv, 488 pages) : illustrations (some color) |
| Contents |
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 |
| Summary |
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 |
| Analysis |
pathologie |
|
pathology |
|
geneeskunde |
|
medicine |
|
volksgezondheid |
|
public health |
|
oogheelkunde |
|
ophthalmology |
|
humane genetica |
|
human genetics |
|
Medicine (General) |
|
Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references and index |
| Notes |
English |
|
Online resource; title from PDF title page (SpringerLink, viewed July 28, 2014) |
| Subject |
Retina -- Diseases -- Genetic aspects
|
|
Retina -- Diseases -- Atlases
|
|
Retinal Diseases -- genetics
|
|
MEDICAL -- Surgery -- General.
|
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Retina -- Diseases
|
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Retina -- Diseases -- Genetic aspects
|
| Genre/Form |
atlases.
|
|
Atlases
|
|
Scientific atlases
|
|
Atlases.
|
|
Atlas.
|
| Form |
Electronic book
|
| Author |
Puech, Bernard, editor
|
|
De Laey, J. J., editor.
|
|
Holder, Graham E., editor.
|
| ISBN |
9783540694663 |
|
3540694668 |
|
3540694641 |
|
9783540694649 |
|
9783662518014 |
|
3662518015 |
|
9783540865650 |
|
3540865659 |
|
