Description
Springer Inherited Chorioretinal Dystrophies A Textbook and Atlas 1st Editon 2014 Hardbound by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder
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. 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.