BookBernard Puech, Jean-Jacques De Laey, Graham E. Holder, editors.
Contents:
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.