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Lieferstatus:	Auf Bestellung (Lieferzeit unbekannt)
Veröffentlichung:	Dezember 2019
Genre:	Naturwissensch., Medizin, Technik
	A / eye disease / Medicine / Ophthalmology / Retinal Dystrophy
ISBN:	9783030132347
EAN-Code:	9783030132347
Verlag:	Springer EN
Einband:	Kartoniert
Sprache:	English
Dimensionen:	H 279 mm / B 210 mm / D
Gewicht:	1044 gr
Seiten:	279
Illustration:	XIII, 279 p. 169 illus., 163 illus. in color., schwarz-weiss Illustrationen, farbige Illustrationen
Zus. Info:	EUDR exemption - product or manufacturing materials placed on the market prior to 31.12.2025.
Bewertung:	Titel bewerten / Meinung schreiben

Inhalt:

Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, Retinal Dystrophy Gene Atlas contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. Retinal Dystrophy Gene Atlas  serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.