Inherited Chorioretinal Dystrophies [[electronic resource] ] : A Textbook and Atlas / / edited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder

• Pubblicazione: Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014
• Edizione: 1st ed. 2014.
• Descrizione fisica: 1 online resource (477 p.)
• Disciplina: 599935; 610; 611.01816; 616.07
• Soggetto topico: Ophthalmology; Human genetics; Pathology; Human Genetics
• Persona (resp. second.): PuechBernard; De LaeyJ. J; HolderGraham E
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references and index at the end of each chapters.
• Nota di contenuto: 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 -- 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.
• Sommario/riassunto: 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.
• Titolo autorizzato: Inherited Chorioretinal Dystrophies
• ISBN: 3-540-69466-8
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910300066103321
• Lo trovi qui: Univ. Federico II