Inherited Chorioretinal Dystrophies A Textbook and Atlas /

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Puech, Bernard (Επιμελητής έκδοσης), De Laey, Jean-Jacques (Επιμελητής έκδοσης), Holder, Graham E. (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014.
• Θέματα: Medicine.; Human genetics.; Ophthalmology.; Pathology.; Medicine & Public Health.; Human Genetics.

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...

Πίνακας περιεχομένων:

• 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.