Record Display for the EPA National Library Catalog


Main Title Retinal Degenerative Diseases [electronic resource] /
Author Hollyfield, Joe G.
Other Authors
Author Title of a Work
Anderson, Robert E.
LaVail, Matthew M.
Publisher Springer US,
Year Published 2006
Call Number QM1-695
ISBN 9780387324425
Subjects Medicine ; Human anatomy ; Ophthalmology ; Epidemiology ; Quality of Life ; Life sciences ; Quality of Life--Research
Internet Access
Description Access URL
Collation XXII, 557 p. online resource.
Due to license restrictions, this resource is available to EPA employees and authorized contractors only
Contents Notes
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. 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.