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Record Nr. |
UNINA9910300066103321 |
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Titolo |
Inherited Chorioretinal Dystrophies : A Textbook and Atlas / / edited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder |
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Pubbl/distr/stampa |
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Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
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ISBN |
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Edizione |
[1st ed. 2014.] |
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Descrizione fisica |
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1 online resource (477 p.) |
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Disciplina |
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599935 |
610 |
611.01816 |
616.07 |
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Soggetti |
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Ophthalmology |
Medical genetics |
Pathology |
Medical Genetics |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references and index at the end of each chapters. |
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Nota di contenuto |
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Investigations -- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing -- Dark adaptation -- Fluorescein angiography -- ICG angiography -- Fundus autofluorescence in retinal dystrophies -- Spectral-domain optical coherence tomography in hereditary retinal dystrophies. Inherited Retinal Dystrophies -- Inherited stationary disorders of the retina -- Retinitis pigmentosa and allied disorders -- Leber congenital amaurosis -- Retinitis punctata albescens -- Usher Syndromes -- Cone and Cone-rod dystrophies -- Enhanced S-Cone syndrome -- Chorioretinopathies: Choroideremia and gyrate atrophy -- Late onset retinal degeneration -- Stargardt Disease -- Bestrophinopathies -- Retinal dystrophies associated with the PRPH2 gene -- Alström syndrome -- Bardet-Biedl syndrome -- Cohen syndrome -- Juvenile neuronal ceroid lipofuscinosis (JNCL) -- Adult Refsum disease -- Abetalipoproteinemia -- LCHAD deficiency -- Jalili syndrome -- |
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Spinocerebellar ataxia -- 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 (EMAP) -- Congenital hypotrichosis with juvenile macular dystrophy -- Mitochondrial retinopathies -- Sorsby fundus dystrophy -- Bietti crystalline corneoretinal dystrophy -- Cystinosis -- Oxalosis -- Alport syndrome -- X-linked retinoschisis -- Paramacular choriocapillaris atrophy -- Exudative vitreoretinopathy -- Stickler syndrome -- Wagner syndrome -- Incontinentia pigmenti Type II (IP2) -- Ganglion cell disease -- Pseudoxanthoma elasticum -- Aicardi Syndrome -- Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Azial-Dufier syndrome) -- Alagille syndrome -- Future therapies for retinitis pigmentosa. |
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Sommario/riassunto |
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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. |
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