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Medicine - Ophthalmology | Inherited Chorioretinal Dystrophies - A Textbook and Atlas

Inherited Chorioretinal Dystrophies

A Textbook and Atlas

Puech, Bernard, De Laey, Jean-Jacques, Holder, Graham E. (Eds.)

2014, XV, 488 p. 428 illus., 339 illus. in color.

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  • Provides clear clinical descriptions of the inherited chorioretinal dystrophies
  • Describes the functional repercussions of these diseases
  • Presents up-to-date information on their genetic basis
  • Written by renowned experts in the field
  • Lavishly illustrated with unique and rare illustrations

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.

Content Level » Professional/practitioner

Keywords » Fluorescein Angiography - Genetics - Ophthalmoscopy - Retinal dystrophies - Visual functions

Related subjects » Human Genetics - Ophthalmology - Pathology

Table of contents 

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.

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