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Atlas of Inherited Retinal Diseases

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they are related to the most frequently encountered genes. It will also meet the hitherto unmet need of PhD students who would benefit fr...

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Corporate Author: SpringerLink (Online service)
Other Authors: Tsang, Stephen H. (Editor, http://id.loc.gov/vocabulary/relators/edt), Sharma, Tarun. (Editor, http://id.loc.gov/vocabulary/relators/edt)
Language:English
Published: Cham : Springer International Publishing : Imprint: Springer, 2018.
Edition:1st ed. 2018.
Series:Advances in Experimental Medicine and Biology, 1085
Subjects:
Gene therapy.
Animal genetics.
Ophthalmology.
Medical genetics.
Gene Therapy.
Animal Genetics and Genomics.
Gene Function.
Online Access:https://doi.org/10.1007/978-3-319-95046-4
Table of Contents:
  • 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 Paravenous Chorioretinal 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.

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