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    Bernard Puech, Jean-Jacques De Laey, Graham E. Holder, editors.
    Introduction to Molecular Genetics and Genetic Testing for Retinal Dystrophies -- Electrophysiological Testing -- Dark Adaptation -- Fluorescein Angiography -- Indocyanine Green Angiography -- Fundus Autofluorescence Imaging in Retinal Dystrophies -- Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies -- Inherited Stationary Disorders of the Retina -- Retinitis Pigmentosa and Allied Disorders -- Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy -- Retinitis Punctata Albescens -- Usher Syndromes -- Cone and Cone-Rod Dystrophies -- Enhanced S-Cone Syndrome -- Chorioretinopathies: Choroideraemia and Gyrate Atrophy -- Late-Onset Retinal Dystrophy (LORD) -- Stargardt Disease -- The Bestrophinopathies -- Retinal Dystrophies Associated with the PRPH2 Gene -- Alström Syndrome -- Bardet-Biedl Syndrome -- Cohen Syndrome -- Juvenile Neuronal Ceroid Lipofuscinoses (JNCL) -- Adult Refsum Disease (ARD) -- Abetalipoproteinemia -- LCHAD Deficiency -- Jalili Syndrome -- Spinocerebellar Ataxia 7 -- 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 -- Congenital Hypotrichosis with Juvenile Macular Dystrophy -- Mitochondrial Retinopathies -- Sorsby Fundus Dystrophy -- Bietti Crystalline Corneoretinal Dystrophy -- Cystinosis -- Primary Oxalosis -- Alport Syndrome -- X-Linked Retinoschisis -- Paramacular Choriocapillaris Atrophy -- Exudative Vitreoretinopathy -- Stickler Syndrome -- Wagner Syndrome -- Incontinentia Pigmenti Type II (IP2) -- Ganglion Cell Diseases -- Pseudoxanthoma Elasticum -- Aicardi Syndrome -- Microcephaly and Chorioretinopathy With or Without Mental Retardation and Lymphedema -- Alagille Syndrome -- Future Therapies for Retinitis Pigmentosa.
    Digital Access  Springer 2014