img Leseprobe Leseprobe

Atlas of Inherited Retinal Diseases

Tarun Sharma (Hrsg.), Stephen H. Tsang (Hrsg.)

PDF
ca. 223,63
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Springer International Publishing img Link Publisher

Naturwissenschaften, Medizin, Informatik, Technik / Klinische Fächer

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.


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Schlagwörter

molecular genetics, exon sequencing, genome testing, gene therapy, inherited retinal disease, genetic eye disorder