Retinal Degenerative Diseases

Joe G. Hollyfield, Robert E. Anderson, Matthew M. Lavail (Herausgeber)

Buch | Softcover

557 Seiten

2014
Springer-Verlag New York Inc.
978-1-4899-9772-2 (ISBN)

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Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration.

From the contents Genetic Factors Modifying Clinical Expression of Autosomal Dominant Rp.- Disease-Associated Variants of The Rod-Derived Cone Viability Factor (Rdcvf) In Leber Congenital Amaurosis. Rod-Derived Cone Viability Variants in Lca.- Leber Congenital Amaurosis: Survey of The Genetic Heterogeneity, Refinement of The Clinical Definition and Phenotype-Genotype Correlations as A Strategy For Molecular Diagnosis. Clinical and Molecular Survey in Lca.- A First Locus For Isolated Autosomal Recessive Optic Atrophy (Roa1) Maps To Chromosome 8q21-Q22.- Rcc1-Like Domain and ORF15: Essentials in Rpgr Gene.- Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the Rds/Peripherin Gene.- Biochemical Characterisation of the C1QTNF5 Gene Associated With Late-Onset Retinal Degeneration. A Genetic Model of Age-Related Macular Degeneration.- Bietti Crystalline Corneoretinal Dystrophy Associated with Cyp4v2 Gene Mutations.- Fundus Appearance Of Choroideremia Using Optical Coherence Tomograpy.- A2e, A Fluorophore Of Rpe Lipofuscin, Can Destabilie Membrane.- Amino-Retinoid Compounds in The Human Retinal Pigment Epithelium.- Annexins In Bruch’s Membrane and Drusen.- Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by Impdh1 Mutations.

Erscheint lt. Verlag	25.11.2014
Zusatzinfo	XXII, 557 p.
Verlagsort	New York
Sprache	englisch
Maße	155 x 235 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Augenheilkunde
	Studium ► 1. Studienabschnitt (Vorklinik) ► Anatomie / Neuroanatomie
	Studium ► Querschnittsbereiche ► Epidemiologie / Med. Biometrie
	Studium ► Querschnittsbereiche ► Prävention / Gesundheitsförderung
	Naturwissenschaften ► Biologie
ISBN-10	1-4899-9772-5 / 1489997725
ISBN-13	978-1-4899-9772-2 / 9781489997722
Zustand	Neuware