Beschreibung:
This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients' genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.
This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.
Section I: Basic Knowledge. Retinal Histology and Anatomical Landmarks.- Fluorescein Angiography.- Optical Coherence Tomography.- Fundus Autofluorescence.- Electroretinography.- Electrooculography.- Glossary of Relevant Genetic and Molecular/Cell Biology.- Section II: X-linked Forms.- X-Linked Retinitis Pigmentosa.- X-Linked Choroideremia.- X-Linked Juvenile Retinoschisis.- X-Linked Ocular Albinism.- Progressive Cone Dystrophy and Cone-Rod Dystrophy.- Congenital Stationary Night Blindness.- Blue Cone Monochromatism.- Section III: Autosomal Dominant Forms.- Autosomal Dominant Retinitis Pigmentosa.- Best Vitelliform Macular Dystrophy.- Pattern Dystrophy.- Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).- Occult Macular Dystrophy.- Sorsby Pseudoinflammatory Fundus Dystrophy.- North Carolina Macular Dystrophy.- Pigmented ParavenousChorioretinal Atrophy (PPCRA).- Late-Onset Retinal Degeneration.- Section IV: Autosomal Recessive Form.- Rod Monochromatism (Achromatopsia).- Retinitis Pigmentosa (Non-syndromic).- Leber Congenital Amaurosis.- Stargardt Disease.- Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).- Best Vitelliform Macular Dystrophy.- Section V: Systemic Disorders.- Mitochondrial Disorder: Kearns-Sayre Syndrome.- Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness.- Ciliopathy: Usher Syndrome.- Ciliopathy: Bardet-Biedl Syndrome.- Ciliopathy: Senior-Løken Syndrome.- Ciliopathy: Alström Syndrome.- Ciliopathy: Sjögren-Larsson Syndrome.- Inborn Errors of Metabolism: Gyrate Atrophy.- Inborn Errors of Metabolism: Pseudoxanthoma Elasticum.- Inborn Errors of Metabolism: Refsum Disease.- Inborn Errors of Metabolism: Bietti Crystalline Dystrophy.- Extracellular Matrix: Alport Syndrome.- Section VI: Phakomatoses.- Von Hippel-Lindau Disease.- Tuberous Sclerosis.- Neurofibromatosis.- Section VII: Phenocopies.- Rubella Retinopathy.- Syphilis.- Autoimmune Retinopathy.- Drug-Induced Retinal Toxicity.- Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases.- Diffuse Unilateral Subacute Neuroretinitis (DUSN).- Section VIII: Managing IRDs in Clinics.- A Practical Approach to Retinal Dystrophies.- Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding.
