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 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.

Written and compiled by leading names in Stem Cell research, genome surgery and Ophthalmology Traces more of the genetic medicine behind these disorders than its closest competitor A remarkable package of illustrations black and white and color enhanced and expanded upon by the accompanying text

Autorentext
Stephen H. Tsang MD, PhD has been culturing embryonic stem (ES) cells since 1992 and in 1995 created the first mouse model for a recessive form of retinitis pigmentosa (RP) by applying homologous recombination to ES cell technology. Since 1996, the Dr. Tsang has been quantifying retinal function and structure in gene-targeted mutant mice. As the director an international referral center for inherited retinal degenerations, Dr. Tsang cares for a specific subgroup of patients that are most appropriately aligned with precision medicine. At times, patients suffer from a disorder that is related to an existing transgenic mouse model generated in the laboratory, and other times patients inspire new models. . Dr. Tsang's contributions to genetics has being recognized by the 2005 Bernard Becker-Association of University Professor in Ophthalmology-Research to Prevent Blindness Award, Carl Camras Award, and the 2013 Bradley Straatsma Lectureship. Dr. Tsang received 2008 resident teaching award. He is also a standing member of the DPVS study section at NIH, American Society for Clinical Investigation, American Ophthalmological Society and Macular Society.
Tarun Sharma
For over three decades, Tarun Sharma was associated with a tertiary eye care institute SANKARA NETHRALAYA Chennai, India. He was the director of vitreoretinal services and professor of ophthalmology for over a decade. For his distinguished contribution to the field of ophthalmology, he was awarded thrice by the American Academy of Ophthalmology: Achievement Award (2007), International Ophthalmologist Education Award (2009), and the International Scholar Award (2011). In 2017, he joined the Edward S. Harkness Institute, the Columbia University Medical Center, NY, and currently working as a gene therapist at Jonas Children's Vision Care.

Klappentext

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 from seeing the phenotypes of the genes they work on and study. Further, because it would help geneticists use and familiarize themselves with the candidate gene approach to test patients' genomes, enabling them to test more efficiently and cost-efficiently (as the cost of genetic testing is quite high and spiralling higher). This invaluable atlas is organized into eight sections starting with the basic knowledge on retinal imaging as an introduction to the subject matter, then diseases are listed according to their inheritance pattern while disorders with extraocular manifestations are grouped by their defining features. This structure will be intuitive to cliniciansand students studying IRDs.

Inhalt
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.