Atlas of Inherited Retinal Diseases
-15%
portes grátis
Atlas of Inherited Retinal Diseases
Tsang, Stephen H.; Sharma, Tarun
Springer International Publishing AG
01/2019
274
Dura
Inglês
9783319950457
15 a 20 dias
1327
Descrição não disponível.
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-Loken Syndrome.- Ciliopathy: Alstroem Syndrome.- Ciliopathy: Sjoegren-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.
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
inherited retinal disease;genetic eye disorder;molecular genetics;genome testing;exon sequencing;gene therapy
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-Loken Syndrome.- Ciliopathy: Alstroem Syndrome.- Ciliopathy: Sjoegren-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.
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
